ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.646+1G>T

dbSNP: rs1046172334
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Human Genetics, University of Kinshasa RCV002274285 SCV002558847 pathogenic Tyrosinase-positive oculocutaneous albinism 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces a Guanine with a Thymine 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. In one patient, segregation analysis showed that the variant was in trans to the deletion. Segregation analysis was not performed in the remaining 2 patients. This variant was classified as pathogenic according to the ACMG guidelines.

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