ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.551G>A (p.Cys184Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003035247 SCV003338004 uncertain significance Mucopolysaccharidosis, MPS-II 2022-11-08 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. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 184 of the IDS protein (p.Cys184Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IDS-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IDS protein function. This variant disrupts the p.Cys184 amino acid residue in IDS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8940265, 33676511). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.

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