ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.8103_8104del (p.Asp2703fs)

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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 RCV003815449 SCV004609340 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-04-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp2703Leufs*9) in the FLNC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acid(s) of the FLNC protein. 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. This variant disrupts a region of the FLNC protein in which other variant(s) (p.Trp2710*) have been determined to be pathogenic (PMID: 15929027, 22961544). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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