ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) (rs200764804)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778422 SCV000914661 uncertain significance Tyrosinase-positive oculocutaneous albinism 2018-12-03 criteria provided, single submitter clinical testing The OCA2 c.1363A>G (p.Arg455Gly) has been reported in one study and was found in three individuals diagnosed with oculocutaneous albinism from the Chinese Han population (Wei et al. 2010). An affected male was compound heterozygous for p.Arg455Gly with a second nonsense variant. The variant was found in a heterozygous state in the two further affected individuals. The p.Arg455Gly variant was absent from 100 Han Chinese control subjects and is reported at a frequency of 0.016 in the Chinese Dai population of the 1000 Genomes Project. Based on the evidence the p.Arg455Gly variant is classified as a variant of unknown significance but suspicious for pathogenicity for oculocutaneous albinism. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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