Submissions for variant NM_001458.5(FLNC):c.851-5C>T

gnomAD frequency: 0.00001  dbSNP: rs758216356

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000430081	SCV000529554	likely benign	not specified	2016-07-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000649265	SCV000771090	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-08-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446712	SCV002681553	uncertain significance	Cardiovascular phenotype	2022-01-27	criteria provided, single submitter	clinical testing	The c.851-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 5 in the FLNC gene. This nucleotide position is not well 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.