Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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 |