Submissions for variant NM_001458.5(FLNC):c.2392G>A (p.Asp798Asn)

gnomAD frequency: 0.00003  dbSNP: rs778594252

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000541324	SCV000650946	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-11-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001707736	SCV001935823	benign	not provided	2020-07-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002456212	SCV002737154	likely benign	Cardiovascular phenotype	2020-01-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486876	SCV004240630	benign	Cardiomyopathy	2023-06-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962561	SCV004781818	likely benign	FLNC-related disorder	2023-05-27	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).