ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2055del (p.Phe685fs)

dbSNP: rs772595552
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000496043 SCV000584105 pathogenic Tyrosinase-positive oculocutaneous albinism 2014-09-11 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences 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, LabCorp 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, Greenwood Genetic Center RCV000496043 SCV004244610 pathogenic Tyrosinase-positive oculocutaneous albinism 2023-10-12 criteria provided, single submitter clinical testing PVS1, PM2, PM3

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