ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2135del (p.Ile712fs)

gnomAD frequency: 0.00001  dbSNP: rs775008954
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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 RCV002000078 SCV002230106 pathogenic not provided 2023-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile712Lysfs*11) 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 (rs775008954, gnomAD 0.009%). 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: 1453009). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471139 SCV004209010 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2023-08-22 criteria provided, single submitter clinical testing

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