Submissions for variant NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp)

dbSNP: rs199604590

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171863	SCV000050879	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000171863	SCV000581945	uncertain significance	not provided	2018-02-08	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the ACTN2 gene. The R482W variant was reported as a variant of uncertain significance in one individual from a cohort of individuals not selected for cardiomyopathy, arrhythmia, or family history of sudden cardiac death, who underwent exome sequencing (Ng et al., 2013). This variant is observed in 9/66,280 (0.01%) alleles from individuals of European (Non-Finnish) ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). Nevertheless, the R482W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054030	SCV002423157	likely benign	Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy	2024-12-23	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000171863	SCV002541777	uncertain significance	not provided	2021-05-20	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000171863	SCV004238928	uncertain significance	not provided	2023-06-16	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000601112	SCV000734004	uncertain significance	Dilated cardiomyopathy 1AA		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000171863	SCV001920211	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000171863	SCV001930964	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000171863	SCV001955096	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000171863	SCV001966876	uncertain significance	not provided		no assertion criteria provided	clinical testing