ClinVar Miner

Submissions for variant NM_001320752.2(STS):c.241C>T (p.Arg81Trp)

gnomAD frequency: 0.00001  dbSNP: rs1259321805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243547 SCV002512223 uncertain significance X-linked ichthyosis with steryl-sulfatase deficiency 2021-02-25 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003774691 SCV004675565 pathogenic not provided 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 86 of the STS protein (p.Arg86Trp). This variant is present in population databases (no rsID available, gnomAD 0.001%). This missense change has been observed in individual(s) with STS-related conditions (PMID: 35822528; internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1683504). 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 STS protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.

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