ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7459A>G (p.Ile2487Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002385139 SCV002670338 uncertain significance Cardiovascular phenotype 2022-07-23 criteria provided, single submitter clinical testing The p.I2487V variant (also known as c.7459A>G), located in coding exon 45 of the FLNC gene, results from an A to G substitution at nucleotide position 7459. The isoleucine at codon 2487 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in a few of the vertebrate species. 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.
Invitae RCV003099643 SCV003489033 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-08-24 criteria provided, single submitter clinical testing

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