ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5685del (p.Val1896fs)

dbSNP: rs1808809268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256680 SCV001433052 likely pathogenic Conduction disorder of the heart 2019-09-12 criteria provided, single submitter clinical testing
Invitae RCV002568754 SCV003246271 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2021-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1896Trpfs*57) in the FLNC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 978274). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is not present in population databases (gnomAD no frequency).

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