Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001064309 | SCV001229202 | uncertain significance | Progressive familial heart block type IB | 2022-11-30 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 858434). This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 811 of the TRPM4 protein (p.Gly811Ala). |
| Ambry Genetics | RCV003160527 | SCV003913739 | uncertain significance | Cardiovascular phenotype | 2022-12-07 | criteria provided, single submitter | clinical testing | The p.G811A variant (also known as c.2432G>C), located in coding exon 17 of the TRPM4 gene, results from a G to C substitution at nucleotide position 2432. The glycine at codon 811 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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. |