ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6753dup (p.Ala2252fs)

dbSNP: rs1808965674
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038851 SCV001202350 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2020-03-14 criteria provided, single submitter clinical testing Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). This sequence change creates a premature translational stop signal (p.Ala2252Cysfs*60) in the FLNC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FLNC-related conditions. For these reasons, this variant has been classified as Pathogenic.

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