ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp)

gnomAD frequency: 0.00013  dbSNP: rs779079128
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529464 SCV000651031 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714608 SCV000845318 uncertain significance Myofibrillar myopathy 5 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714609 SCV000845319 uncertain significance Distal myopathy with posterior leg and anterior hand involvement 2018-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330943 SCV002636720 uncertain significance Cardiovascular phenotype 2021-07-19 criteria provided, single submitter clinical testing The p.R1494W variant (also known as c.4480C>T), located in coding exon 26 of the FLNC gene, results from a C to T substitution at nucleotide position 4480. The arginine at codon 1494 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available 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 RCV003144354 SCV003831425 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing
GeneDx RCV003144354 SCV003927457 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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