ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)

gnomAD frequency: 0.00004  dbSNP: rs757286784
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174230 SCV000225496 uncertain significance not provided 2014-08-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502815 SCV000596146 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2016-03-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000502815 SCV001280318 uncertain significance Tyrosinase-positive oculocutaneous albinism 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV000502815 SCV002040003 uncertain significance Tyrosinase-positive oculocutaneous albinism 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000174230 SCV002244415 pathogenic not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 395 of the OCA2 protein (p.Met395Leu). This variant is present in population databases (rs757286784, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 7874125; Invitae). 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: 193984). 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. This variant disrupts the p.Met195 amino acid residue in OCA2. Other variant(s) that disrupt this residue have been observed in individuals with OCA2-related conditions (PMID: 20019752), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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