ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1738A>G (p.Met580Val)

gnomAD frequency: 0.00021  dbSNP: rs375845025
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698574 SCV000827246 uncertain significance Dilated Cardiomyopathy, Recessive 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 580 of the PLEKHM2 protein (p.Met580Val). This variant is present in population databases (rs375845025, gnomAD 0.05%). 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: 576149). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002533529 SCV003692360 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.1738A>G (p.M580V) alteration is located in exon 9 (coding exon 9) of the PLEKHM2 gene. This alteration results from a A to G substitution at nucleotide position 1738, causing the methionine (M) at amino acid position 580 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.