Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192434 | SCV000248363 | uncertain significance | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
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 | |
Gene |
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- |
RCV001797675 | SCV002040025 | uncertain significance | Tyrosinase-positive oculocutaneous albinism | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Prevention |
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. |