ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)

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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 RCV002585444 SCV003493098 pathogenic not provided 2024-06-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 572 of the OCA2 protein (p.Arg572Cys). This variant is present in population databases (rs374415755, gnomAD 0.03%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 31077556, 31196117, 34838614). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2177243). 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 not expected to disrupt OCA2 protein function with a negative predictive value of 80%. This variant disrupts the p.Arg572 amino acid residue in OCA2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29345414). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465971 SCV004209046 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005011020 SCV005630565 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-05-15 criteria provided, single submitter clinical testing

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