ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2389G>A (p.Val797Met)

gnomAD frequency: 0.00003  dbSNP: rs1453645890
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054894 SCV001219252 uncertain significance Dilated Cardiomyopathy, Recessive 2022-03-16 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 850674). This variant has not been reported in the literature in individuals affected with PLEKHM2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 797 of the PLEKHM2 protein (p.Val797Met).

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