ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7315G>A (p.Val2439Met)

gnomAD frequency: 0.00002  dbSNP: rs752667511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342074 SCV001535980 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384463 SCV002674376 uncertain significance Cardiovascular phenotype 2022-02-10 criteria provided, single submitter clinical testing The p.V2439M variant (also known as c.7315G>A), located in coding exon 44 of the FLNC gene, results from a G to A substitution at nucleotide position 7315. The valine at codon 2439 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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