Submissions for variant NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys)

gnomAD frequency: 0.00005  dbSNP: rs367931139

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000556748	SCV000651016	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-10-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002324028	SCV002632419	uncertain significance	Cardiovascular phenotype	2023-05-16	criteria provided, single submitter	clinical testing	The p.R1352C variant (also known as c.4054C>T), located in coding exon 23 of the FLNC gene, results from a C to T substitution at nucleotide position 4054. The arginine at codon 1352 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center	RCV001700151	SCV001917410	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700151	SCV001931451	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001700151	SCV001958180	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700151	SCV001971303	uncertain significance	not provided		no assertion criteria provided	clinical testing