ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7423G>A (p.Val2475Ile)

gnomAD frequency: 0.00001  dbSNP: rs191224002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824378 SCV000965274 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381885 SCV002674491 uncertain significance Cardiovascular phenotype 2022-06-01 criteria provided, single submitter clinical testing The p.V2475I variant (also known as c.7423G>A), located in coding exon 45 of the FLNC gene, results from a G to A substitution at nucleotide position 7423. The valine at codon 2475 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, isoleucine is the reference amino acid in other 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.
Revvity Omics, Revvity RCV003489919 SCV004234825 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing

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