ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) (rs144812594)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193262 SCV000248364 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2015-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000413048 SCV000491125 likely pathogenic not provided 2016-08-15 criteria provided, single submitter clinical testing The T404M variant in the OCA2 gene has been reported in the heterozygous state in the father of a male individual with oculocutaneous albinism, and the mother was heterozygous for a pathogenic frameshift variant. Their son was unavailable for testing, however, it was assumed that he was compound heterozygous for these two variants (Spritz et al., 1995). The T404M variant is reported as likely pathogenic in ClinVar by a different clinical laboratory, but additional evidence is not available (ClinVar SCV000248364.1; Landrum et al., 2015). The T404M variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T404M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The T404M variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
University of Washington Center for Mendelian Genomics,University of Washington RCV000755087 SCV000882905 likely pathogenic Nonsyndromic Oculocutaneous Albinism 2017-03-07 no assertion criteria provided research

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