ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1405G>A (p.Val469Ile)

dbSNP: rs748904369
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208359 SCV001379742 uncertain significance Dilated Cardiomyopathy, Recessive 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 469 of the PLEKHM2 protein (p.Val469Ile). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 939035). This variant has not been reported in the literature in individuals affected with PLEKHM2-related conditions. This variant is present in population databases (rs748904369, gnomAD 0.01%).

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