Submissions for variant NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)

dbSNP: rs2128939508

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001387812	SCV001588531	pathogenic	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2020-12-12	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). This variant has not been reported in the literature in individuals with FLNC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val2290Argfs*23) in the FLNC gene. It is expected to result in an absent or disrupted protein product.
Clinical Genetics, Academic Medical Center	RCV001699782	SCV001925774	pathogenic	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699782	SCV001928618	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699782	SCV001957396	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699782	SCV001972952	pathogenic	not provided		no assertion criteria provided	clinical testing