ClinVar Miner

Submissions for variant NM_000275.2(OCA2):c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal) (rs797044784)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000486337 SCV000232505 pathogenic not provided 2017-03-02 criteria provided, single submitter clinical testing
GeneDx RCV000486337 SCV000568223 likely pathogenic not provided 2017-07-28 criteria provided, single submitter clinical testing The c.819_822delCTGGinsGGTC variant in the OCA2 gene has been reported previously in multiple individuals with oculocutaneous albinism in presence of another heterozygous OCA2 variant (King et al., 2003; Garrison et al., 2004; Rooryck et al., 2008; Chiang et al., 2008). The c.819_822delCTGGinsGGTC variant results in an in-frame deletion of codons Asparagine 273 to Tryptophan 274 and an insertion of Lysine and Valine notated as p.Asn273_Trp274delinsLysVal. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. We interpret c.819_822delCTGGinsGGTC as a likely pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000180125 SCV000596152 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2015-11-03 criteria provided, single submitter clinical testing

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