Submissions for variant NM_001458.5(FLNC):c.1243G>A (p.Val415Met)

gnomAD frequency: 0.00004  dbSNP: rs369182765

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000702072	SCV000830906	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-12-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002386251	SCV002671674	uncertain significance	Cardiovascular phenotype	2022-09-12	criteria provided, single submitter	clinical testing	The p.V415M variant (also known as c.1243G>A), located in coding exon 8 of the FLNC gene, results from a G to A substitution at nucleotide position 1243. The valine at codon 415 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV003144557	SCV003833084	uncertain significance	not provided	2022-06-07	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Medical University Innsbruck	RCV004555593	SCV005044704	uncertain significance	Hypertrophic cardiomyopathy 26		criteria provided, single submitter	clinical testing