ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.419G>A (p.Arg140His)

gnomAD frequency: 0.00002  dbSNP: rs370689695
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000533866 SCV000636969 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2024-11-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769745 SCV000901167 uncertain significance Cardiomyopathy 2015-09-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483404 SCV002775188 uncertain significance Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy, distal, 6, adult-onset, autosomal dominant 2021-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302813 SCV003997195 uncertain significance Cardiovascular phenotype 2023-06-05 criteria provided, single submitter clinical testing The p.R140H variant (also known as c.419G>A), located in coding exon 4 of the ACTN2 gene, results from a G to A substitution at nucleotide position 419. The arginine at codon 140 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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.