ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1706G>C (p.Gly569Ala)

dbSNP: rs1557660418
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697852 SCV000826484 uncertain significance Dilated Cardiomyopathy, Recessive 2018-01-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 569 of the PLEKHM2 protein (p.Gly569Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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).

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