Submissions for variant NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn)

dbSNP: rs375414341

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001227415	SCV001399774	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-10-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429966	SCV002727394	uncertain significance	Cardiovascular phenotype	2022-11-17	criteria provided, single submitter	clinical testing	The p.D723N variant (also known as c.2167G>A), located in coding exon 14 of the FLNC gene, results from a G to A substitution at nucleotide position 2167. The aspartic acid at codon 723 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, asparagine 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.
Revvity Omics, Revvity	RCV003145428	SCV003831427	uncertain significance	not provided	2020-03-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003145428	SCV004010721	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	FLNC: BP4