ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1841dup (p.His615fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003557845 SCV004296561 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His615Alafs*2) 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 0.01%). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 27734839). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005003670 SCV005630563 pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-01-10 criteria provided, single submitter clinical testing

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