ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) (rs747214535)

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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 RCV000270433 SCV000390141 uncertain significance Tyrosinase-positive oculocutaneous albinism 2017-04-27 criteria provided, single submitter clinical testing The OCA2 c.1453G>A (p.Gly485Arg) missense variant has been reported in one study in which it is found in a homozygous state in two unrelated patients with oculocutaneous albinism. The variant was present in a heterozygous state in at least four unaffected family members (Renugadevi et al. 2010). The variant was absent from 100 controls and is reported at a frequency of 0.00002 in the European (non-Finnish) population of the Exome Aggregation Consortium but this is based on one allele only in a region of good sequence coverage so the variant is presumed to be rare. The Gly485 residue is conserved. Based on the evidence, the Gly485Arg 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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