ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5426C>T (p.Thr1809Met)

gnomAD frequency: 0.00012  dbSNP: rs369118592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802678 SCV000942519 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345793 SCV002647939 uncertain significance Cardiovascular phenotype 2023-05-26 criteria provided, single submitter clinical testing The p.T1809M variant (also known as c.5426C>T), located in coding exon 33 of the FLNC gene, results from a C to T substitution at nucleotide position 5426. The threonine at codon 1809 is replaced by methionine, an amino acid with 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 RCV003144621 SCV003833094 uncertain significance not provided 2023-09-25 criteria provided, single submitter clinical testing

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