Submissions for variant NM_001458.5(FLNC):c.5043G>A (p.Thr1681=)

gnomAD frequency: 0.00001  dbSNP: rs200405579

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001453361	SCV001657052	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-12-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350914	SCV002646336	likely benign	Cardiovascular phenotype	2020-10-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002476772	SCV002799065	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26	2021-07-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003946185	SCV004760204	likely benign	FLNC-related condition	2023-06-12	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).