ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6190dup (p.Val2064fs)

dbSNP: rs1808888920
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045974 SCV001209852 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-06-24 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: 843365). 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.Val2064Glyfs*16) 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).
Revvity Omics, Revvity RCV001784595 SCV002023739 likely pathogenic not provided 2022-02-11 criteria provided, single submitter clinical testing
GeneDx RCV001784595 SCV002526222 pathogenic not provided 2021-12-09 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); Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 843365; ClinVar); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002355014 SCV002656872 pathogenic Cardiovascular phenotype 2020-08-18 criteria provided, single submitter clinical testing The c.6190dupG variant, located in coding exon 37 of the FLNC gene, results from a duplication of G at nucleotide position 6190, causing a translational frameshift with a predicted alternate stop codon (p.V2064Gfs*16). 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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