ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2320A>G (p.Lys774Glu)

dbSNP: rs1553161495
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655463 SCV000777393 uncertain significance Dilated Cardiomyopathy, Recessive 2021-01-26 criteria provided, single submitter clinical testing 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PLEKHM2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 774 of the PLEKHM2 protein (p.Lys774Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid.

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