ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4275dup (p.Arg1426fs)

dbSNP: rs756985550
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388852 SCV001590002 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1426Alafs*85) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1075295). For these reasons, this variant has been classified as Pathogenic.

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