ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.248T>G (p.Val83Gly)

dbSNP: rs1569560525
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV005251181 SCV000854447 uncertain significance not provided 2018-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535424 SCV003315340 uncertain significance Mucopolysaccharidosis, MPS-II 2022-08-20 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 598951). This missense change has been observed in individual(s) with clinical features of mucopolysaccharidosis type II (PMID: 30755392, 34670126). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 83 of the IDS protein (p.Val83Gly).
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV002535424 SCV005088923 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Strong)

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