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NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 29, 2020
Accession:
VCV000005113.4
Variation ID:
5113
Description:
single nucleotide variant
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NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)

Allele ID
20152
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80214672 (GRCh38) GRCh38 UCSC
17: 78188471 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.78188471C>T
NC_000017.11:g.80214672C>T
NM_000199.5:c.449G>A MANE Select NP_000190.1:p.Arg150Gln missense
... more HGVS
Protein change
R150Q
Other names
-
Canonical SPDI
NC_000017.11:80214671:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA117262
UniProtKB: P51688#VAR_007402
OMIM: 605270.0005
dbSNP: rs104894638
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Aug 29, 2020 RCV000005420.8
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SGSH - - GRCh38
GRCh37
399 601

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 02, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: unknown
Counsyl
Accession: SCV000798966.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (5)
Pathogenic
(Oct 04, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000920207.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (6)
Comment:
Variant summary: SGSH c.449G>A (p.Arg150Gln) results in a conservative amino acid change located in the Sulfatase, N-terminal domain of the encoded protein sequence. Three of … (more)
Pathogenic
(Aug 29, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: germline
Invitae
Accession: SCV000754682.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (9)
Comment:
This sequence change replaces arginine with glutamine at codon 150 of the SGSH protein (p.Arg150Gln). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Jan 01, 1998)
no assertion criteria provided
Method: literature only
MUCOPOLYSACCHARIDOSIS, TYPE IIIA
Allele origin: germline
OMIM
Accession: SCV000025602.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Functional evidence

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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 this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Héron B American journal of medical genetics. Part A 2011 PMID: 21204211
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Valstar MJ Annals of neurology 2010 PMID: 21061399
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Yogalingam G Human mutation 2001 PMID: 11668611
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. Chabás A American journal of medical genetics 2001 PMID: 11343308
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations. Beesley CE Journal of medical genetics 2000 PMID: 11182930
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. Esposito S Biochimica et biophysica acta 2000 PMID: 10727844
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
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Bunge S Human mutation 1997 PMID: 9401012

Text-mined citations for rs104894638...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021