ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6418C>T (p.Arg2140Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003086819 SCV003482903 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004073221 SCV005018235 uncertain significance Cardiovascular phenotype 2023-02-28 criteria provided, single submitter clinical testing The p.R2140W variant (also known as c.6418C>T), located in coding exon 39 of the FLNC gene, results from a C to T substitution at nucleotide position 6418. The arginine at codon 2140 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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