ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.1624A>G (p.Met542Val)

gnomAD frequency: 0.00001  dbSNP: rs770807444
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698983 SCV000827674 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2024-03-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170475 SCV001333055 uncertain significance Cardiomyopathy 2017-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397436 SCV002708929 uncertain significance Cardiovascular phenotype 2023-12-11 criteria provided, single submitter clinical testing The p.M542V variant (also known as c.1624A>G), located in coding exon 14 of the ACTN2 gene, results from an A to G substitution at nucleotide position 1624. The methionine at codon 542 is replaced by valine, an amino acid with highly 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.

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