Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001782546 | SCV002069094 | pathogenic | not provided | 2018-02-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001782546 | SCV002228813 | pathogenic | not provided | 2025-01-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn603Ilefs*25) 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 (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with ocular albinism (PMID: 29345414). ClinVar contains an entry for this variant (Variation ID: 1324826). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV005006050 | SCV005630564 | likely pathogenic | Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 2024-01-05 | criteria provided, single submitter | clinical testing |