ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1307A>C (p.Glu436Ala) (rs199955427)

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 RCV000183259 SCV000235685 uncertain significance not provided 2014-01-29 criteria provided, single submitter clinical testing The E436A variant in the ACTN2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The E436A variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. The E436 residue is conserved across species. In silico analysis predicts E436A is possibly damaging to the protein structure/function. However, no mutations affecting nearby residues have been reported in association with cardiomyopathy, indicating this region of the protein may be tolerant of change. The E436A variant was identified with a frequency of 0.5%, 1/180 alleles, in a sub-population of individuals of Asian ancestry per the 1000 Genomes Project database. With the clinical and molecular information available at this time, we cannot definitively determine if E436A is a disease-causing mutation or a rare benign variant. The variant is found in DCM-CRDM panel(s).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000622803 SCV000740538 uncertain significance Primary familial hypertrophic cardiomyopathy 2017-04-10 criteria provided, single submitter clinical testing
Invitae RCV000183259 SCV001007976 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing
Invitae RCV001500463 SCV001705251 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2018-05-11 criteria provided, single submitter clinical testing

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.