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NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 4, 2020
Accession:
VCV000638088.2
Variation ID:
638088
Description:
single nucleotide variant
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NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)

Allele ID
625889
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80214673 (GRCh38) GRCh38 UCSC
17: 78188472 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.78188472G>A
NC_000017.11:g.80214673G>A
NM_000199.5:c.448C>T MANE Select NP_000190.1:p.Arg150Trp missense
... more HGVS
Protein change
R150W
Other names
-
Canonical SPDI
NC_000017.11:80214672:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1479831530
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 4, 2020 RCV000790554.2
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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 01, 2019)
criteria provided, single submitter
Method: literature only
Mucopolysaccharidosis, MPS-III-A
Allele origin: germline
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova
Accession: SCV000929895.1
Submitted: (Apr 18, 2019)
Evidence details
Publications
PubMed (2)
Comment:
PM2: Very low frequency in ExAc. PP3:multiple lines of computational evidence supporting a deleterious effect (DANN, MutationTaster, GERP, SIFT)
Pathogenic
(Jun 04, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: germline
Invitae
Accession: SCV001578965.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (9)
Comment:
This sequence change replaces arginine with tryptophan at codon 150 of the SGSH protein (p.Arg150Trp). 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
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. Zanetti A European journal of pediatrics 2019 PMID: 30809705
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
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Valstar MJ Annals of neurology 2010 PMID: 21061399
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. Chabás A American journal of medical genetics 2001 PMID: 11343308
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations. Beesley CE Journal of medical genetics 2000 PMID: 11182930
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. Esposito S Biochimica et biophysica acta 2000 PMID: 10727844
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. Montfort M Human mutation 1998 PMID: 9744479
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. Di Natale P Human mutation 1998 PMID: 9554748
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Bunge S Human mutation 1997 PMID: 9401012

Text-mined citations for rs1479831530...

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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 May 13, 2021