ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.1826C>G (p.Ala609Gly)

gnomAD frequency: 0.00006  dbSNP: rs547541099
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208266 SCV000264273 uncertain significance Sudden cardiac death 2015-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853316 SCV002249059 uncertain significance Progressive familial heart block type IB 2022-11-21 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine 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: 222853). This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. This variant is present in population databases (rs547541099, gnomAD 0.008%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 609 of the TRPM4 protein (p.Ala609Gly).
Ambry Genetics RCV002408908 SCV002713142 uncertain significance Cardiovascular phenotype 2023-11-21 criteria provided, single submitter clinical testing The p.A609G variant (also known as c.1826C>G), located in coding exon 13 of the TRPM4 gene, results from a C to G substitution at nucleotide position 1826. The alanine at codon 609 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and glycine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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.