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NM_000199.5(SGSH):c.1135del (p.Val379fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 16, 2020
Accession:
VCV000280988.4
Variation ID:
280988
Description:
1bp deletion
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NM_000199.5(SGSH):c.1135del (p.Val379fs)

Allele ID
265225
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80210826 (GRCh38) GRCh38 UCSC
17: 78184625 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1330:g.45835del
NC_000017.10:g.78184625del
NC_000017.11:g.80210826del
... more HGVS
Protein change
V379fs
Other names
-
Canonical SPDI
NC_000017.11:80210825:C:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00000
Links
ClinGen: CA8817663
dbSNP: rs777956287
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Feb 16, 2020 RCV001174888.2
Pathogenic 1 criteria provided, single submitter Sep 2, 2016 RCV000259896.1
Pathogenic 1 criteria provided, single submitter Jun 14, 2016 RCV000266557.2
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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
410 636

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 02, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000330998.4
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (2)
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, Type III
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000407348.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (4)
Comment:
The c.1135delG (p.Val379CysfsTer34) variant (also known as delG1147) results in a frameshift, and is predicted to result in premature termination of the protein. The p.Val379CysfsTer … (more)
Pathogenic
(Feb 16, 2020)
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: SCV001338310.1
Submitted: (Apr 29, 2020)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: SGSH c.1135delG (p.Val379CysfsX34) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Nov 26, 2019)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: germline
Invitae
Accession: SCV001586455.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change results in a premature translational stop signal in the SGSH gene (p.Val379Cysfs*34). While this is not anticipated to result in nonsense mediated … (more)

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
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. Chistiakov DA Clinica chimica acta; international journal of clinical chemistry 2014 PMID: 24875751
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. Muschol N Human mutation 2004 PMID: 15146460
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Yogalingam G Human mutation 2001 PMID: 11668611
Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Weber B Human molecular genetics 1997 PMID: 9285796
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SGSH - - - -

Text-mined citations for rs777956287...

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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 Sep 29, 2021