ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4345A>G (p.Arg1449Gly)

gnomAD frequency: 0.00001  dbSNP: rs766943407
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754386 SCV001987500 uncertain significance not provided 2019-05-24 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
AiLife Diagnostics, AiLife Diagnostics RCV001754386 SCV002502945 uncertain significance not provided 2021-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538733 SCV003341336 uncertain significance Hypertrophic cardiomyopathy 14 2022-04-10 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: 1302497). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (rs766943407, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1449 of the MYH6 protein (p.Arg1449Gly).
Ambry Genetics RCV005382168 SCV006034028 uncertain significance Cardiovascular phenotype 2025-02-06 criteria provided, single submitter clinical testing The p.R1449G variant (also known as c.4345A>G), located in coding exon 28 of the MYH6 gene, results from an A to G substitution at nucleotide position 4345. The arginine at codon 1449 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant 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.