Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001589947 | SCV001824720 | pathogenic | not provided | 2023-06-04 | criteria provided, single submitter | clinical testing | 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 significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV001589947 | SCV002150546 | pathogenic | not provided | 2024-10-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala696Thrfs*2) 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 (rs746307353, gnomAD 0.02%). 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: 1217688). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003470870 | SCV004209009 | likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 2023-08-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005005979 | SCV005630556 | likely pathogenic | Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 2024-06-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004743555 | SCV005354357 | likely pathogenic | OCA2-related disorder | 2024-07-23 | no assertion criteria provided | clinical testing | The OCA2 c.2086_2095del10 variant is predicted to result in a frameshift and premature protein termination (p.Ala696Thrfs*2). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD. Frameshift variants in OCA2 are expected to be pathogenic. Given the evidence, we interpret this variant as likely pathogenic. |