ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)

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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 RCV003058449 SCV003442746 likely pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2137622). This missense change has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 18821858, 28726809, 29345414; Invitae). This variant is present in population databases (rs779382711, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 811 of the OCA2 protein (p.Arg811Ser). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003128321 SCV003804568 likely pathogenic Tyrosinase-positive oculocutaneous albinism criteria provided, single submitter clinical testing

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