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NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Aug 31, 2017
Accession:
VCV000553553.1
Variation ID:
553553
Description:
single nucleotide variant
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NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)

Allele ID
544792
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p11.21
Genomic location
8: 43197900 (GRCh38) GRCh38 UCSC
8: 43053043 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.43053043C>G
NC_000008.11:g.43197900C>G
NG_009552.1:g.62452C>G
... more HGVS
Protein change
Y558*, Y587*, Y270*, Y494*
Other names
-
Canonical SPDI
NC_000008.11:43197899:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554537841
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 31, 2017 RCV000669029.1
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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
533 594

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 31, 2017)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-C
Allele origin: unknown
Counsyl
Accession: SCV000793727.1
Submitted: (Jul 10, 2018)
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
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Xiong HY Science (New York, N.Y.) 2015 PMID: 25525159
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. Feldhammer M Human mutation 2009 PMID: 19479962

Text-mined citations for rs1554537841...

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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