ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2239G>A (p.Val747Ile)

gnomAD frequency: 0.00003  dbSNP: rs764876916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237669 SCV001410441 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002430014 SCV002726858 uncertain significance Cardiovascular phenotype 2022-03-03 criteria provided, single submitter clinical testing The p.V747I variant (also known as c.2239G>A), located in coding exon 14 of the FLNC gene, results from a G to A substitution at nucleotide position 2239. The valine at codon 747 is replaced by isoleucine, 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.
GeneDx RCV003227014 SCV003923856 uncertain significance not provided 2022-12-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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