Submissions for variant NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln)

gnomAD frequency: 0.00003  dbSNP: rs573984029

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001040709	SCV001204298	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-10-05	criteria provided, single submitter	clinical testing
GeneDx	RCV001729781	SCV002001799	uncertain significance	not provided	2020-02-03	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 does not alter protein structure/function
Ambry Genetics	RCV002348350	SCV002642626	uncertain significance	Cardiovascular phenotype	2023-11-23	criteria provided, single submitter	clinical testing	The p.R1758Q variant (also known as c.5273G>A), located in coding exon 31 of the FLNC gene, results from a G to A substitution at nucleotide position 5273. The arginine at codon 1758 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, glutamine is the reference amino acid in other vertebrate species. 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729781	SCV001978231	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001729781	SCV001979523	likely benign	not provided		no assertion criteria provided	clinical testing