ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1805T>C (p.Val602Ala) (rs1555103539)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658350 SCV000780122 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing The V602A variant in the ABCC9 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V602A variant is not observed in large population cohorts (Lek et al., 2016). The V602A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret V602A as a variant of uncertain significance

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