ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1438G>A (p.Gly480Ser)

gnomAD frequency: 0.00006  dbSNP: rs376758113
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687451 SCV000815016 uncertain significance Dilated Cardiomyopathy, Recessive 2022-12-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 567383). 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with PLEKHM2-related conditions. This variant is present in population databases (rs376758113, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 480 of the PLEKHM2 protein (p.Gly480Ser).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.