Submissions for variant NM_001458.5(FLNC):c.2930-5C>T

gnomAD frequency: 0.00003  dbSNP: rs371599113

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000585170	SCV000693253	uncertain significance	not provided	2017-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV001084700	SCV001018681	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
Ambry Genetics	RCV002438519	SCV002748566	uncertain significance	Cardiovascular phenotype	2023-01-20	criteria provided, single submitter	clinical testing	The c.2930-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 20 in the FLNC gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003900301	SCV004716598	likely benign	FLNC-related disorder	2020-09-29	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).