ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6953G>A (p.Arg2318Gln)

gnomAD frequency: 0.00001  dbSNP: rs749235580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815107 SCV000955551 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363124 SCV002664365 uncertain significance Cardiovascular phenotype 2022-06-14 criteria provided, single submitter clinical testing The p.R2318Q variant (also known as c.6953G>A), located in coding exon 41 of the FLNC gene, results from a G to A substitution at nucleotide position 6953. The arginine at codon 2318 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003127475 SCV003803447 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing Identified in a patient with frontotemporal dementia in published literature (Janssens et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26555887)

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