ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile)

dbSNP: rs576783493
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 RCV000537010 SCV000636949 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2024-07-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171001 SCV001333670 uncertain significance Cardiomyopathy 2018-03-14 criteria provided, single submitter clinical testing
GeneDx RCV001764561 SCV002008416 uncertain significance not provided 2021-09-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 463199; Landrum et al., 2016)
Ambry Genetics RCV003159801 SCV003911648 uncertain significance Cardiovascular phenotype 2023-01-11 criteria provided, single submitter clinical testing The p.N684I variant (also known as c.2051A>T), located in coding exon 17 of the ACTN2 gene, results from an A to T substitution at nucleotide position 2051. The asparagine at codon 684 is replaced by isoleucine, an amino acid with dissimilar properties. This variant was detected in a cardiomyopathy genetic testing cohort; however, clinical details were limited, and additional cardiac variants were detected in some cases (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). This amino acid position is not well conserved in available 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.