Submissions for variant NM_001458.5(FLNC):c.1242C>T (p.Ile414=)

gnomAD frequency: 0.00004  dbSNP: rs761922411

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000546708	SCV000650889	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
GeneDx	RCV001696952	SCV000721724	likely benign	not provided	2020-06-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002384208	SCV002672385	likely benign	Cardiovascular phenotype	2019-12-29	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330785	SCV004038048	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952827	SCV004767482	likely benign	FLNC-related disorder	2023-07-20	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).