Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 16, 2020
Accession:
VCV001075946.1
Variation ID:
1075946
Description:
single nucleotide variant
Help

NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter)

Allele ID
1064471
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80210549 (GRCh38) GRCh38 UCSC
17: 78184348 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.78184348C>T
NC_000017.11:g.80210549C>T
NM_000199.5:c.1412G>A MANE Select NP_000190.1:p.Trp471Ter nonsense
... more HGVS
Protein change
W471*
Other names
-
Canonical SPDI
NC_000017.11:80210548:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 16, 2020 RCV001389672.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 16, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: germline
Invitae
Accession: SCV001591121.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change results in a premature translational stop signal in the SGSH gene (p.Trp471*). While this is not anticipated to result in nonsense mediated … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
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

Record last updated May 13, 2021