ClinVar Miner

Submissions for variant NM_001079878.2(CNGA3):c.1615G>A (p.Gly539Arg) (rs104893615)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000169654 SCV000221181 uncertain significance not specified 2013-10-30 criteria provided, single submitter clinical testing The Gly557Arg variant in CNGA3 has been identified in 1 compound heterozygous individual with achromatopsia (Kohl 1998). Functional studies indicate this variant may alter protein function (Reuter 2008), though the assay is not clinically validated. In summary, although these data favor pathogenicity of the Gly557Arg variant, additional studies are needed to fully assess its clinical significance.
OMIM RCV000010084 SCV000030305 pathogenic Achromatopsia 2 1998-07-01 no assertion criteria provided literature only

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