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NM_000202.8(IDS):c.143G>C (p.Arg48Pro)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 24, 2019)
Last evaluated:
Mar 30, 2018
Accession:
VCV000632860.1
Variation ID:
632860
Description:
single nucleotide variant
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NM_000202.8(IDS):c.143G>C (p.Arg48Pro)

Allele ID
621681
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 149504254 (GRCh38) GRCh38 UCSC
X: 148585784 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.148585784C>G
NC_000023.11:g.149504254C>G
NG_011900.3:g.6081G>C
... more HGVS
Protein change
R48P
Other names
-
Canonical SPDI
NC_000023.11:149504253:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1569560528
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 Mar 30, 2018 RCV000780348.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IDS Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
220 647

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 30, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-II
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000917536.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: IDS c.143G>C (p.Arg48Pro) results in a non-conservative amino acid change in the Sulfatase, N-terminal domain of the encoded protein sequence. Five of five … (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
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. Sukegawa K Human molecular genetics 2000 PMID: 10814710

Text-mined citations for rs1569560528...

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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 Dec 02, 2021