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NM_000199.5(SGSH):c.545G>A (p.Arg182His)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 8, 2020
Accession:
VCV001071734.1
Variation ID:
1071734
Description:
single nucleotide variant
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NM_000199.5(SGSH):c.545G>A (p.Arg182His)

Allele ID
1064476
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80214290 (GRCh38) GRCh38 UCSC
17: 78188089 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.78188089C>T
NC_000017.11:g.80214290C>T
NM_000199.5:c.545G>A MANE Select NP_000190.1:p.Arg182His missense
... more HGVS
Protein change
R182H
Other names
-
Canonical SPDI
NC_000017.11:80214289:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 8, 2020 RCV001384263.1
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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
Pathogenic
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: germline
Invitae
Accession: SCV001583692.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces arginine with histidine at codon 182 of the SGSH protein (p.Arg182His). The arginine residue is highly conserved and there is a … (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
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype. Nijmeijer SCM Orphanet journal of rare diseases 2019 PMID: 31718697
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. Zanetti A European journal of pediatrics 2019 PMID: 30809705
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Valstar MJ Annals of neurology 2010 PMID: 21061399
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. Esposito S Biochimica et biophysica acta 2000 PMID: 10727844
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. Di Natale P Human mutation 1998 PMID: 9554748

Record last updated May 13, 2021