ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1975A>G (p.Thr659Ala) (rs878854783)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227266 SCV000288980 uncertain significance Dilated cardiomyopathy 1O 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 659 of the ABCC9 protein (p.Thr659Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ABCC9-related disease. The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In addition, algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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