ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1808del (p.Asn603fs)

dbSNP: rs1476192724
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001782546 SCV002069094 pathogenic not provided 2018-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001782546 SCV002228813 pathogenic not provided 2025-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn603Ilefs*25) in the OCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OCA2 are known to be pathogenic (PMID: 19865097, 21541274). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with ocular albinism (PMID: 29345414). ClinVar contains an entry for this variant (Variation ID: 1324826). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005006050 SCV005630564 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-01-05 criteria provided, single submitter clinical testing

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