ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1144G>C (p.Asp382His)

gnomAD frequency: 0.00008  dbSNP: rs370125505
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688992 SCV000816625 uncertain significance Mucopolysaccharidosis, MPS-II 2022-02-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 382 of the IDS protein (p.Asp382His). This variant is present in population databases (rs370125505, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with IDS-related conditions. ClinVar contains an entry for this variant (Variation ID: 568588). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Daryl Scott Lab, Baylor College of Medicine RCV000688992 SCV001448625 uncertain significance Mucopolysaccharidosis, MPS-II 2020-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000688992 SCV002027033 uncertain significance Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458216 SCV002613074 uncertain significance Inborn genetic diseases 2015-03-26 criteria provided, single submitter clinical testing The p.D382H variant (also known as c.1144G>C), located in coding exon 8 of the IDS gene, results from a G to C substitution at nucleotide position 1144. The aspartic acid at codon 382 is replaced by histidine, an amino acid with similar properties. This variant has been detected in conjunction with a pathogenic mutation in GRIA3 gene by our laboratory. This variant was previously reported in the SNPDatabase as rs370125505. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele was absent out of 2443 total male alleles studied. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001830497 SCV002084464 uncertain significance Mucopolysaccharidosis, MPS-III-A 2019-10-28 no assertion criteria provided clinical testing

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