ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7483C>G (p.Arg2495Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003785802 SCV004567607 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004366515 SCV005017817 uncertain significance Cardiovascular phenotype 2024-02-01 criteria provided, single submitter clinical testing The p.R2495G variant (also known as c.7483C>G), located in coding exon 45 of the FLNC gene, results from a C to G substitution at nucleotide position 7483. The arginine at codon 2495 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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