Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000496043 | SCV000584105 | pathogenic | Tyrosinase-positive oculocutaneous albinism | 2014-09-11 | criteria provided, single submitter | research | |
Prevention |
RCV003424048 | SCV004116727 | pathogenic | OCA2-related condition | 2023-08-28 | criteria provided, single submitter | clinical testing | The OCA2 c.2055delT variant is predicted to result in a frameshift and premature protein termination (p.Phe685Leufs*7). This variant has been reported in individuals with oculocutaneous albinism II (reported as c.2050delT in Oetting et al. 2005. PubMed ID: 15712365; Simeonov et al. 2013. PubMed ID: 23504663). This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-28171296-CA-C). Frameshift variants in OCA2 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003492077 | SCV004240914 | pathogenic | Oculocutaneous albinism | 2023-12-12 | criteria provided, single submitter | clinical testing | Variant summary: OCA2 c.2055delT (p.Phe685LeufsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 2e-05 in 251180 control chromosomes. The variant has been reported as part of a complex allele in individuals affected with Oculocutaneous Albinism (Simeonov_2013). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000496043 | SCV004244610 | pathogenic | Tyrosinase-positive oculocutaneous albinism | 2023-10-12 | criteria provided, single submitter | clinical testing | PVS1, PM2, PM3 |