ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1503+5G>A (rs368124046)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193557 SCV000248367 pathogenic Tyrosinase-positive oculocutaneous albinism 2015-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000302408 SCV000329444 pathogenic not provided 2019-01-10 criteria provided, single submitter clinical testing The c.1503+5G>A pathogenic variant in the OCA2 gene has been reported previously in association with oculocutaneous albinism, in affected siblings who were compound heterozygous for the c.1503+5G>A variant and another loss-of-function variant (Rimoldi et al., 2014). Functional studies showed the use of a cryptic splice donor site within intron 14, and sequencing of the aberrant transcript demonstrated it would result in a frameshift, starting with codon Glycine 502, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 84 of the new reading frame, denoted p.Gly502ValfsX84 (Rimoldi et al., 2014). The c.1503+5G>A variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1503+5G>A as a pathogenic variant.
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000193557 SCV000891285 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2016-05-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762939 SCV000893362 likely pathogenic Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 1 2018-10-31 criteria provided, single submitter clinical testing

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