ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2084del (p.Arg695fs)

dbSNP: rs1808334682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238630 SCV001411454 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2020-05-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). This variant has not been reported in the literature in individuals with FLNC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg695Leufs*8) in the FLNC gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV001586078 SCV001811426 pathogenic not provided 2023-05-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease

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