ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2404dup (p.Tyr802fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290084 SCV002581756 uncertain significance Tyrosinase-positive oculocutaneous albinism 2022-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101670 SCV003442804 pathogenic not provided 2022-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the OCA2 protein in which other variant(s) (p.Tyr827*) have been determined to be pathogenic (PMID: 29345414). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This frameshift has been observed in individual(s) with ocular albinism (PMID: 27734839). This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the OCA2 gene (p.Tyr802Leufs*48). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acid(s) of the OCA2 protein and extend the protein by 10 additional amino acid residues.

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