ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1933A>G (p.Lys645Glu) (rs876657734)

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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 RCV000221331 SCV000271477 uncertain significance not specified 2015-04-10 criteria provided, single submitter clinical testing The p.Lys645Glu variant in ABCC9 has not been previously reported in individuals with cardiomyopathy or large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. In summary, the clinical significance of the p.Lys645Glu varia nt is uncertain.
Invitae RCV000640320 SCV000761909 uncertain significance Dilated cardiomyopathy 1O 2017-09-05 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 645 of the ABCC9 protein (p.Lys645Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ABCC9-related disease. ClinVar contains an entry for this variant (Variation ID: 228419). 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 and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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