ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6715C>T (p.Arg2239Trp)

gnomAD frequency: 0.00003  dbSNP: rs367820987
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824072 SCV000964953 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV001772144 SCV001994540 uncertain significance not provided 2019-08-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30403391)
Ambry Genetics RCV002372360 SCV002667293 uncertain significance Cardiovascular phenotype 2024-01-02 criteria provided, single submitter clinical testing The p.R2239W variant (also known as c.6715C>T), located in coding exon 40 of the FLNC gene, results from a C to T substitution at nucleotide position 6715. The arginine at codon 2239 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been reported in a sudden cardiac arrest cohort; however, clinical details were limited and an additional alteration in a cardiac-related gene was identified (Stpie-Wojno M et al. Pol Arch Intern Med, 2018 12;128:721-730). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001772144 SCV003833125 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing

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