ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.692C>T (p.Pro231Leu)

dbSNP: rs2089450305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001376687 SCV003445272 pathogenic Mucopolysaccharidosis, MPS-II 2024-12-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 231 of the IDS protein (p.Pro231Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with mucopolysaccharidosis II (PMID: 9762601, 12572848, 27146977, 30639582). ClinVar contains an entry for this variant (Variation ID: 1065825). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt IDS protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001376687 SCV005089187 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Supporting), 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_Moderate)
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi RCV001376687 SCV001573772 affects Mucopolysaccharidosis, MPS-II 2014-04-03 no assertion criteria provided research The change c.692C>T, (p.P231L) was found to be a missense variant, where the cyclic nonpolar neutral amino acid Proline at 231 position was substituted by aliphatic nonpolar neutral amino acid Leucine. It was detected in the hemizygous condition in one case with attenuated phenotype from Delhi, India.

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