ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile)

gnomAD frequency: 0.00213  dbSNP: rs137956605
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192434 SCV000248363 uncertain significance not specified 2015-01-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732449 SCV000860409 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
Invitae RCV000732449 SCV001717642 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000732449 SCV001781947 uncertain significance not provided 2022-01-21 criteria provided, single submitter clinical testing Previously reported in the published literature in a patient with OCA type 2 who also harbored a second OCA2 variant, however parental studies were not performed to determine the phase of these two variants, and functional studies were not performed (Lee et al., 1994); Observed in 184/282774 (0.065%) alleles in large population cohorts, and multiple individuals were reported to be homozygous (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25525159, 7874125)
Genome-Nilou Lab RCV001797675 SCV002040025 uncertain significance Tyrosinase-positive oculocutaneous albinism 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003417701 SCV004115940 uncertain significance OCA2-related condition 2023-06-23 criteria provided, single submitter clinical testing The OCA2 c.1153T>A variant is predicted to result in the amino acid substitution p.Phe385Ile. This variant has been reported along with a 2nd OCA2 variant an individual with oculocutaneous albinism (Lee et al 1994. PubMed ID: 7874125). This variant is reported in 0.70% of alleles in individuals of African descent in gnomAD, including three homozygotes (http://gnomad.broadinstitute.org/variant/15-28234776-A-T), indicating it is fairly common in this population. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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