ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs)

gnomAD frequency: 0.00003  dbSNP: rs746307353
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589947 SCV001824720 pathogenic not provided 2023-06-04 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001589947 SCV002150546 pathogenic not provided 2024-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala696Thrfs*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 (rs746307353, 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: 1217688). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003470870 SCV004209009 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2023-08-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005979 SCV005630556 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-06-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743555 SCV005354357 likely pathogenic OCA2-related disorder 2024-07-23 no assertion criteria provided clinical testing The OCA2 c.2086_2095del10 variant is predicted to result in a frameshift and premature protein termination (p.Ala696Thrfs*2). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD. Frameshift variants in OCA2 are expected to be pathogenic. Given the evidence, we interpret this variant as likely pathogenic.

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