ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1365-1G>A

dbSNP: rs2140965742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Human Genetics, University of Kinshasa RCV002274286 SCV002558848 pathogenic Tyrosinase-positive oculocutaneous albinism 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces a Guanine with an Arginine at a canonical splice site. This variant is absent from population databases, including gnomAD. We identified this variant in a heterozygous state in 3 patients with Tyrosinase-positive oculocutaneous albinism in the Democratic Republic of Congo (DRC). All three patients were known to be heterozygous for the classic 2.7 deletion in the OCA2 gene. Segregation analysis was not performed to unequivocally establish co-segregation with the 2.7 deletion. This variant was classified as pathogenic according to the ACMG guidelines.
Labcorp Genetics (formerly Invitae), Labcorp RCV003718468 SCV004501507 pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the OCA2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in OCA2 are known to be pathogenic (PMID: 19865097, 21541274). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with ocular albinism (PMID: 36116698). ClinVar contains an entry for this variant (Variation ID: 1700025). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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