Submissions for variant NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser)

gnomAD frequency: 0.00005  dbSNP: rs199705417

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001067264	SCV001232314	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001724226	SCV004161030	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	FLNC: BS1
Ambry Genetics	RCV004030646	SCV005017676	uncertain significance	Cardiovascular phenotype	2023-01-26	criteria provided, single submitter	clinical testing	The p.G681S variant (also known as c.2041G>A), located in coding exon 13 of the FLNC gene, results from a G to A substitution at nucleotide position 2041. The glycine at codon 681 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724226	SCV001951634	uncertain significance	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001724226	SCV001963221	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724226	SCV001964978	uncertain significance	not provided		no assertion criteria provided	clinical testing