Submissions for variant NM_001458.5(FLNC):c.7399C>T (p.Arg2467Cys)

gnomAD frequency: 0.00001  dbSNP: rs1278916117

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000649096	SCV000770921	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-09-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001529127	SCV001773779	uncertain significance	not provided	2020-11-25	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at a 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
Ambry Genetics	RCV002386092	SCV002671197	uncertain significance	Cardiovascular phenotype	2021-09-09	criteria provided, single submitter	clinical testing	The p.R2467C variant (also known as c.7399C>T), located in coding exon 45 of the FLNC gene, results from a C to T substitution at nucleotide position 7399. The arginine at codon 2467 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529127	SCV001742062	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529127	SCV001973353	uncertain significance	not provided		no assertion criteria provided	clinical testing