ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7484G>A (p.Arg2495His)

gnomAD frequency: 0.00003  dbSNP: rs757219498
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649136 SCV000770961 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388126 SCV002669800 uncertain significance Cardiovascular phenotype 2023-05-11 criteria provided, single submitter clinical testing The p.R2495H variant (also known as c.7484G>A), located in coding exon 45 of the FLNC gene, results from a G to A substitution at nucleotide position 7484. The arginine at codon 2495 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in a cardiomyopathy cohort (Ader F et al. Clin Genet, 2019 Oct;96:317-329). This amino acid position is highly conserved in available vertebrate species. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480738 SCV004224110 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing PP3, PS4_supporting

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