ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4378C>T (p.Arg1460Trp)

gnomAD frequency: 0.00001  dbSNP: rs376265227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055020 SCV001219384 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327317 SCV002633001 uncertain significance Cardiovascular phenotype 2021-12-29 criteria provided, single submitter clinical testing The p.R1460W variant (also known as c.4378C>T), located in coding exon 25 of the FLNC gene, results from a C to T substitution at nucleotide position 4378. The arginine at codon 1460 is replaced by tryptophan, an amino acid with dissimilar 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.
Revvity Omics, Revvity RCV003145304 SCV003833042 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing

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