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NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 16, 2020
Accession:
VCV000830366.2
Variation ID:
830366
Description:
single nucleotide variant
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NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)

Allele ID
818747
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p11.21
Genomic location
8: 43197842 (GRCh38) GRCh38 UCSC
8: 43052985 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.43052985C>G
NC_000008.11:g.43197842C>G
NG_009552.1:g.62394C>G
... more HGVS
Protein change
S251C, S475C, S539C, S568C
Other names
-
Canonical SPDI
NC_000008.11:43197841:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1372286994
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 16, 2020 RCV001366744.1
Pathogenic 1 no assertion criteria provided Sep 4, 2019 RCV001030803.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HGSNAT - - GRCh38
GRCh37
534 595

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jun 16, 2020)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001563059.1
Submitted: (Jan 07, 2021)
Publications:
PubMed (3)
PubMed: 180242181982358420583299
Comment:
This sequence change replaces serine with cysteine at codon 539 of the HGSNAT protein (p.Ser539Cys). The serine residue is highly conserved and there is a … (more)
Pathogenic
(Sep 04, 2019)
no assertion criteria provided
Method: literature only
Mucopolysaccharidosis
Affected status: unknown
Allele origin: germline
GeneReviews
Accession: SCV001194292.1
Submitted: (Oct 17, 2019)
Publications:
PubMed (2)
PubMed: 3153618318024218

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
Mucopolysaccharidosis Type III Wagner VF - 2019 PMID: 31536183
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). Fedele AO Human mutation 2010 PMID: 20583299
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. Feldhammer M PloS one 2009 PMID: 19823584
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Ruijter GJ Molecular genetics and metabolism 2008 PMID: 18024218

Text-mined citations for rs1372286994...

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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 Nov 27, 2021