ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.785T>A (p.Val262Glu)

gnomAD frequency: 0.00001  dbSNP: rs782053689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981569 SCV002222558 uncertain significance Mucopolysaccharidosis, MPS-II 2024-12-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 262 of the IDS protein (p.Val262Glu). This variant is present in population databases (rs782053689, gnomAD 0.001%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with clinical features of IDS-related conditions (PMID: 36907694). ClinVar contains an entry for this variant (Variation ID: 1443998). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on IDS protein function. 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.
Revvity Omics, Revvity RCV001981569 SCV004235544 uncertain significance Mucopolysaccharidosis, MPS-II 2023-07-13 criteria provided, single submitter clinical testing

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