ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2530A>T (p.Ile844Phe)

gnomAD frequency: 0.00009  dbSNP: rs770529447
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799718 SCV000939394 uncertain significance Dilated Cardiomyopathy, Recessive 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 844 of the PLEKHM2 protein (p.Ile844Phe). This variant is present in population databases (rs770529447, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with PLEKHM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 645605). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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