Submissions for variant NM_001458.5(FLNC):c.5306_5314del (p.Glu1769_Pro1771del)

dbSNP: rs2128938073

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV003771868	SCV004582031	uncertain significance	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-01-21	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1297500). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant, c.5306_5314del, results in the deletion of 3 amino acid(s) of the FLNC protein (p.Glu1769_Pro1771del), but otherwise preserves the integrity of the reading frame.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723281	SCV001953287	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723281	SCV001976158	uncertain significance	not provided		no assertion criteria provided	clinical testing