ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg)

gnomAD frequency: 0.00001  dbSNP: rs1384042381
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003322778 SCV004028434 likely pathogenic not provided 2023-08-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32581362, 28041643)
Fulgent Genetics, Fulgent Genetics RCV005010444 SCV005630567 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-04-03 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504873 SCV000598890 likely pathogenic Albinism 2015-01-01 no assertion criteria provided research

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