Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001382526 | SCV001581350 | pathogenic | not provided | 2024-07-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg53Glyfs*49) 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 (rs758894409, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with albinism (PMID: 27734839). ClinVar contains an entry for this variant (Variation ID: 1070405). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001382526 | SCV001826964 | pathogenic | not provided | 2021-02-19 | criteria provided, single submitter | clinical testing | Identified in the heterozygous state in several individuals with oculocutaneous albinism, but a second OCA2 variant was not identified in these individuals (Gronskov et al., 2009; Urtatiz et al., 2014; Gao et al., 2017); 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 a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25455140, 19060277, 28451379) |
Genome- |
RCV001797836 | SCV002040631 | pathogenic | Tyrosinase-positive oculocutaneous albinism | 2021-11-07 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV001797836 | SCV002581050 | likely pathogenic | Tyrosinase-positive oculocutaneous albinism | 2022-07-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002499794 | SCV002810509 | pathogenic | Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 2024-05-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003462985 | SCV004208999 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004743448 | SCV005367535 | pathogenic | OCA2-related disorder | 2024-05-26 | no assertion criteria provided | clinical testing | The OCA2 c.157delA variant is predicted to result in a frameshift and premature protein termination (p.Arg53Glyfs*49). This variant has been reported in the compound heterozygous state in individuals with oculocutaneous albinism (Mauri et al. 2016. PubMed ID: 27734839; Table S1, Wei et al. 2022. PubMed ID: 34838614). This variant is reported in 0.0027% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in OCA2 are expected to be pathogenic. Given the evidence, we interpret this variant as pathogenic. |