ClinVar Genomic variation as it relates to human health
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
Variation ID: 5111 Accession: VCV000005111.43
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q25.3 17: 80217084 (GRCh38) [ NCBI UCSC ] 17: 78190883 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 16, 2015 Apr 15, 2024 Feb 9, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000199.5:c.197C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000190.1:p.Ser66Trp missense NM_001352921.3:c.197C>G NP_001339850.1:p.Ser66Trp missense NM_001352922.2:c.197C>G NP_001339851.1:p.Ser66Trp missense NR_148201.2:n.217C>G non-coding transcript variant NC_000017.11:g.80217084G>C NC_000017.10:g.78190883G>C NG_008229.1:g.8317C>G P51688:p.Ser66Trp - Protein change
- S66W
- Other names
- -
- Canonical SPDI
- NC_000017.11:80217083:G:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00010
The Genome Aggregation Database (gnomAD) 0.00011
Exome Aggregation Consortium (ExAC) 0.00015
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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SGSH | - | - |
GRCh38 GRCh38 GRCh37 |
975 | 1452 | |
SLC26A11 | - | - |
GRCh38 GRCh37 |
28 | 59 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (16) |
criteria provided, multiple submitters, no conflicts
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Feb 9, 2024 | RCV000005418.34 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 2, 2017 | RCV000586103.1 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Nov 1, 2023 | RCV000255782.15 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 19, 2021 | RCV002512807.1 | |
not provided (1) |
no classification provided
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- | RCV001030815.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 12, 2023 | RCV003934800.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Aug 02, 2017)
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criteria provided, single submitter
Method: clinical testing
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Sanfilippo syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695958.1
First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018 |
Comment:
Variant summary: The SGSH c.197C>G (p.Ser66Trp) variant involves the alteration of a conserved nucleotide located in the Alkaline-phosphatase-like domain of the protein (InterPro). 4/4 in … (more)
Variant summary: The SGSH c.197C>G (p.Ser66Trp) variant involves the alteration of a conserved nucleotide located in the Alkaline-phosphatase-like domain of the protein (InterPro). 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 23/251298 control chromosomes at a frequency of 0.0000915, which does not exceed the estimated maximal expected allele frequency of a pathogenic SGSH variant (0.0032275). This variant has been reported in numerous patients both homozygously and compound heterozygously. Functional study showed variant with 10% of WT enzyme activity (Montfort_MGM_2004) In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Dec 24, 2019)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001193883.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 03, 2020 |
Comment:
NM_000199.3(SGSH):c.197C>G(S66W) is classified as pathogenic in the context of mucopolysaccharidosis type IIIA. Sources cited for classification include the following: PMID 10601282, 15542396, 9158154, 11182930 and … (more)
NM_000199.3(SGSH):c.197C>G(S66W) is classified as pathogenic in the context of mucopolysaccharidosis type IIIA. Sources cited for classification include the following: PMID 10601282, 15542396, 9158154, 11182930 and 9554748. Classification of NM_000199.3(SGSH):c.197C>G(S66W) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Nov 18, 2019)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, type iiia
Affected status: unknown
Allele origin:
germline
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Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV001448842.1
First in ClinVar: Dec 11, 2020 Last updated: Dec 11, 2020 |
Number of individuals with the variant: 1
Clinical Features:
Cerebellar ataxia (present) , Cerebral palsy (present) , Lower limb hyperreflexia (present) , Attention deficit hyperactivity disorder (present) , Global developmental delay (present) , Cleft … (more)
Cerebellar ataxia (present) , Cerebral palsy (present) , Lower limb hyperreflexia (present) , Attention deficit hyperactivity disorder (present) , Global developmental delay (present) , Cleft palate (present) , Enlarged tonsils (present) , Wide nasal bridge (present) , Malar flattening (present) , Downslanted palpebral fissures (present) , Supernumerary nipple (present) , Clubfoot (present) , Obstructive sleep apnea syndrome (present) , Calcaneovalgus deformity (present) , Hallux valgus (present) , Imperforate anus (present) , Neurogenic bladder (present) , Hydronephrosis (present) , Pulmonic stenosis (disease) (present) , Pulmonary valve defects (present) , Lower limb spasticity (present) , Ventricular septal defect (present) , Hyperreflexia (present) (less)
Sex: male
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Pathogenic
(Jun 13, 2022)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002580942.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
Number of individuals with the variant: 3
Sex: male
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Pathogenic
(May 06, 2022)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002809729.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Nov 04, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000321944.11
First in ClinVar: Oct 09, 2016 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate a damaging effect with reduced protein quantity and activity (Perkins et al., 1999; Montfort et al., 2004); In silico analysis supports … (more)
Published functional studies demonstrate a damaging effect with reduced protein quantity and activity (Perkins et al., 1999; Montfort et al., 2004); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 10521831, 25807448, 24816101, 15542396, 31980526, 9554748, 10601282, 9158154, 21228398, 29023963, 30809705, 34440436, 34349725, 31589614) (less)
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Pathogenic
(Oct 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004201070.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Sep 06, 2021)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002021246.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Feb 09, 2024)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV004244436.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Clinical Features:
Hydrocephalus (present) , Macrocephaly (present) , Spastic diplegia (present) , Hypoplasia of the corpus callosum (present) , Abnormal periventricular white matter morphology (present)
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Pathogenic
(Jan 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000831148.7
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces serine, which is neutral and polar, with tryptophan, which is neutral and slightly polar, at codon 66 of the SGSH protein … (more)
This sequence change replaces serine, which is neutral and polar, with tryptophan, which is neutral and slightly polar, at codon 66 of the SGSH protein (p.Ser66Trp). This variant is present in population databases (rs104894637, gnomAD 0.02%). This missense change has been observed in individual(s) with mucopolysaccharidosis type IIIA (PMID: 9158154, 9285796, 9554748, 15542396, 21061399, 22976768). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5111). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SGSH protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects SGSH function (PMID: 10601282, 15542396). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Dec 12, 2023)
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criteria provided, single submitter
Method: clinical testing
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SGSH-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004756366.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The SGSH c.197C>G variant is predicted to result in the amino acid substitution p.Ser66Trp. This variant was reported in multiple individuals mucopolysaccharidosis type IIIA (Sanfilippo … (more)
The SGSH c.197C>G variant is predicted to result in the amino acid substitution p.Ser66Trp. This variant was reported in multiple individuals mucopolysaccharidosis type IIIA (Sanfilippo A) (Blanch. 1997. PubMed ID: 9158154; Knottnerus. 2017. PubMed ID: 29023963; Barone. 2021. PubMed ID: 34349725; Table S4, Barbosa-Gouveia. 2021. PubMed ID: 34440436). Functional in vitro studies found this variant has reduced expression and residual activity (Perkins. 1999. PubMed ID: 10601282). This variant is reported in 0.020% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic. (less)
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Pathogenic
(Sep 21, 2015)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745253.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Sep 23, 2014)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000227051.5
First in ClinVar: Jun 28, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 8
Sex: mixed
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Pathogenic
(Jan 01, 2019)
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criteria provided, single submitter
Method: literature only
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Mucopolysaccharidosis, MPS-III-A
Affected status: yes
Allele origin:
germline
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Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova
Accession: SCV000929891.1
First in ClinVar: Jul 28, 2019 Last updated: Jul 28, 2019 |
Comment:
PS3: Low in vitro enzymatic activity. PP1: Cosegregation with disease in multiple affected family members (strong evidence). PM2: Very low frequency in GnomAD. PP5: reputable … (more)
PS3: Low in vitro enzymatic activity. PP1: Cosegregation with disease in multiple affected family members (strong evidence). PM2: Very low frequency in GnomAD. PP5: reputable source report variant as pathogenic. (less)
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Pathogenic
(Apr 30, 2020)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
unknown
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Undiagnosed Diseases Network, NIH
Study: Undiagnosed Diseases Network (NIH), UDN
Accession: SCV001432758.1 First in ClinVar: Sep 19, 2020 Last updated: Sep 19, 2020 |
Comment:
This variant has been previously reported as disease-causing PMIDs 10601282, 9554748, 29023963, 21228398, 9158154, 24816101, 15542396, 10521831, 25807448.
Number of individuals with the variant: 1
Clinical Features:
Widow's peak (present) , Wide nasal bridge (present) , Urinary incontinence (present) , Thick vermilion border (present) , Thick eyebrow (present) , Sleep disturbance (present) … (more)
Widow's peak (present) , Wide nasal bridge (present) , Urinary incontinence (present) , Thick vermilion border (present) , Thick eyebrow (present) , Sleep disturbance (present) , Shawl scrotum (present) , Prominent supraorbital ridges (present) , Prominent forehead (present) , Obstructive sleep apnea syndrome (present) , Nevus (present) , Mitral regurgitation (present) , Macrocephalus (present) , Lower limb asymmetry (present) , Large earlobe (present) , Intervertebral disc degeneration (present) , Intellectual disability, moderate (present) , Hypospadias, penile (present) , Hypertelorism (present) , Hyperreflexia (present) , High-frequency hearing impairment (present) , High palate (present) , Hepatomegaly (present) , Headache (present) , Global developmental delay (present) , Foot dorsiflexor weakness (present) , Diarrhea (present) , Developmental regression (present) , Decreased muscle mass (present) , Constipation (present) , Cervical spinal canal stenosis (present) , Broad-based gait (present) , Brachydactyly (present) , Attention deficit hyperactivity disorder (present) , Aggressive behavior (present) , Abnormality of the cerebral white matter (present) , 2-3 toe syndactyly (present) (less)
Age: 20-29 years
Sex: male
Ethnicity/Population group: Caucasians
Tissue: blood
Comment on evidence:
This variant was observed as compound heterozygote with NM_000199.4:c.892T>C
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Pathogenic
(Nov 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV002045509.1
First in ClinVar: Jan 03, 2022 Last updated: Jan 03, 2022 |
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Pathogenic
(Mar 27, 2020)
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criteria provided, single submitter
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
Affected status: yes
Allele origin:
germline
|
Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002556478.2
First in ClinVar: Aug 04, 2022 Last updated: Dec 17, 2022 |
Comment:
PS3, PS4, PP3
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Pathogenic
(Feb 19, 2021)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003565285.1
First in ClinVar: Feb 07, 2023 Last updated: Feb 07, 2023 |
Comment:
The c.197C>G (p.S66W) alteration is located in exon 2 (coding exon 2) of the SGSH gene. This alteration results from a C to G substitution … (more)
The c.197C>G (p.S66W) alteration is located in exon 2 (coding exon 2) of the SGSH gene. This alteration results from a C to G substitution at nucleotide position 197, causing the serine (S) at amino acid position 66 to be replaced by a tryptophan (W). Based on data from the Genome Aggregation Database (gnomAD) database, the SGSH c.197C>G alteration was observed in 0.01% (23/257594) of total alleles studied, with a frequency of 0.02% (23/117902) in the European (non-Finnish) subpopulation. This mutation has been detected as heterozygous, compound heterozygous, and homozygous, in individuals with typical severe presentations of Mucopolysaccaridosis type IIIA (Sanfilippo syndrome type A) (Blanch, 1997; Di Natale, 1998; Valstar, 2010; Ouesleti, 2011; Delgadillo, 2013; Shapiro, 2016; Knottnerus, 2017; Zanetti, 2019). In addition, one functional study showed that this mutation results in a drastically reduced level of functional protein as well as lowered specific activity (Perkins, 1999). This amino acid position is highly conserved in available vertebrate species. The in silico prediction for the p.S66W alteration is inconclusive. Based on the available evidence, this alteration is classified as pathogenic. (less)
Number of individuals with the variant: 1
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Pathogenic
(Nov 01, 2023)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV004042018.5
First in ClinVar: Oct 14, 2023 Last updated: Apr 15, 2024 |
Comment:
SGSH: PM3:Very Strong, PM2, PP3, PP4, PS3:Supporting
Number of individuals with the variant: 2
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Pathogenic
(Oct 01, 1999)
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no assertion criteria provided
Method: literature only
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MUCOPOLYSACCHARIDOSIS, TYPE IIIA
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000025600.2
First in ClinVar: Apr 04, 2013 Last updated: Jul 16, 2015 |
Comment on evidence:
Among 24 Italian mucopolysaccharidosis IIIA (MPS3A; 252900) patients, Di Natale et al. (1998) identified a ser66-to-trp (S66W) missense mutation in the SGSH gene, accounting for … (more)
Among 24 Italian mucopolysaccharidosis IIIA (MPS3A; 252900) patients, Di Natale et al. (1998) identified a ser66-to-trp (S66W) missense mutation in the SGSH gene, accounting for 33% of all mutant alleles. All 6 patients from Sardinia had this mutation and 5 of them were homozygous for the change, suggesting that they may share a common ancestor. Montfort et al. (1998) found the S66W mutation in exon 2 in compound heterozygous state in a Spanish patient with Sanfilippo syndrome A. Di Natale et al. (1999) reported the prenatal diagnosis of Sanfilippo syndrome A by study of chorionic villi in the 11-week-old fetus of a woman who was homozygous for the S66W mutation. Because of the findings, the pregnancy was terminated at 12 weeks' gestation. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Mucopolysaccharidosis, MPS-III-A
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733745.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Mucopolysaccharidosis type IIIA
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001453825.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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not provided
(-)
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no classification provided
Method: literature only
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Mucopolysaccharidosis
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV001194304.2
First in ClinVar: Apr 06, 2020 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. | Zanetti A | European journal of pediatrics | 2019 | PMID: 30809705 |
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA. | Knottnerus SJG | Annals of neurology | 2017 | PMID: 29023963 |
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. | Shapiro EG | The Journal of pediatrics | 2016 | PMID: 26787381 |
Natural history of Sanfilippo syndrome in Spain. | Delgadillo V | Orphanet journal of rare diseases | 2013 | PMID: 24314109 |
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. | Pollard LM | Journal of inherited metabolic disease | 2013 | PMID: 22976768 |
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients. | Ouesleti S | Clinica chimica acta; international journal of clinical chemistry | 2011 | PMID: 21910976 |
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. | Valstar MJ | Annals of neurology | 2010 | PMID: 21061399 |
Expression and functional characterization of human mutant sulfamidase in insect cells. | Montfort M | Molecular genetics and metabolism | 2004 | PMID: 15542396 |
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations. | Beesley CE | Journal of medical genetics | 2000 | PMID: 11182930 |
Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome. | Perkins KJ | The Journal of biological chemistry | 1999 | PMID: 10601282 |
Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele. | Di Natale P | Prenatal diagnosis | 1999 | PMID: 10521831 |
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. | Montfort M | Human mutation | 1998 | PMID: 9744479 |
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. | Di Natale P | Human mutation | 1998 | PMID: 9554748 |
Novel mutations in Sanfilippo A syndrome: implications for enzyme function. | Weber B | Human molecular genetics | 1997 | PMID: 9285796 |
Molecular defects in Sanfilippo syndrome type A. | Blanch L | Human molecular genetics | 1997 | PMID: 9158154 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SGSH | - | - | - | - |
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Text-mined citations for rs104894637 ...
HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.