ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs)

dbSNP: rs2041525028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001950873 SCV002237241 pathogenic not provided 2023-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr353Argfs*15) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with OCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1455886). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571729 SCV005053777 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-03-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002720 SCV005630590 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-01-30 criteria provided, single submitter clinical testing

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