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NM_000199.5(SGSH):c.1076C>T (p.Ala359Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Dec 28, 2020)
Last evaluated:
Jan 15, 2019
Accession:
VCV000325834.4
Variation ID:
325834
Description:
single nucleotide variant
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NM_000199.5(SGSH):c.1076C>T (p.Ala359Val)

Allele ID
347706
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80210885 (GRCh38) GRCh38 UCSC
17: 78184684 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.78184684G>A
NC_000017.11:g.80210885G>A
NG_008229.1:g.14516C>T
... more HGVS
Protein change
A359V
Other names
-
Canonical SPDI
NC_000017.11:80210884:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00019
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00008
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
The Genome Aggregation Database (gnomAD) 0.00029
Links
ClinGen: CA8817680
dbSNP: rs202150579
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Jun 12, 2018 RCV000699327.3
Uncertain significance 1 criteria provided, single submitter Jan 15, 2019 RCV000782079.1
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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
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000407352.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: germline
Invitae
Accession: SCV000828033.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces alanine with valine at codon 359 of the SGSH protein (p.Ala359Val). The alanine residue is weakly conserved and there is a … (more)
Uncertain significance
(Jan 15, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
Accession: SCV000920550.1
Submitted: (Feb 22, 2019)
Evidence details
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Mucopolysaccharidosis type IIIA
Allele origin: germline
Natera, Inc.
Accession: SCV001463874.1
Submitted: (Dec 28, 2020)
Evidence details

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

Text-mined citations for rs202150579...

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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 Oct 24, 2021