ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2578G>A (p.Glu860Lys)

gnomAD frequency: 0.00001  dbSNP: rs770725489
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037030 SCV001200421 uncertain significance Dilated Cardiomyopathy, Recessive 2022-06-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs770725489, gnomAD 0.003%). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 836010). This variant has not been reported in the literature in individuals affected with PLEKHM2-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 860 of the PLEKHM2 protein (p.Glu860Lys).

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