ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4628G>A (p.Arg1543Gln)

gnomAD frequency: 0.00001  dbSNP: rs369178040
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802879 SCV000942726 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336616 SCV002636621 uncertain significance Cardiovascular phenotype 2021-12-21 criteria provided, single submitter clinical testing The p.R1543Q variant (also known as c.4628G>A), located in coding exon 27 of the FLNC gene, results from a G to A substitution at nucleotide position 4628. The arginine at codon 1543 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is 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 RCV003144623 SCV003833202 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing
GeneDx RCV003144623 SCV004169630 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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