ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.74_78del (p.Pro25fs)

dbSNP: rs747408689
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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 RCV001939435 SCV002231178 pathogenic not provided 2024-06-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro25Argfs*4) 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 (rs747408689, gnomAD 0.02%). 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: 1454228). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464297 SCV004208979 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-03-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006316 SCV005630607 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-04-26 criteria provided, single submitter clinical testing

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