ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs)

dbSNP: rs1554399513
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554121 SCV000659718 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 478126). 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). This sequence change creates a premature translational stop signal (p.Arg1313Leufs*20) 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).
GeneDx RCV001837994 SCV002098243 likely pathogenic not provided 2023-02-24 criteria provided, single submitter clinical testing 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; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002358632 SCV002621745 pathogenic Cardiovascular phenotype 2019-06-18 criteria provided, single submitter clinical testing The c.3934_3937dupTACC pathogenic mutation, located in coding exon 22 of the FLNC gene, results from a duplication of TACC at nucleotide position 3934, causing a translational frameshift with a predicted alternate stop codon (p.R1313Lfs*20). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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