ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)

gnomAD frequency: 0.00006  dbSNP: rs140857707
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690475 SCV000818161 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343457 SCV002650544 uncertain significance Cardiovascular phenotype 2022-06-06 criteria provided, single submitter clinical testing The p.T1823M variant (also known as c.5468C>T), located in coding exon 33 of the FLNC gene, results from a C to T substitution at nucleotide position 5468. The threonine at codon 1823 is replaced by methionine, an amino acid with similar properties. This alteration has been reported in a myofibrillar myopathy cohort in an individual with a normal cardiac evaluation (Luo YB et al. Front Neurol, 2020 Sep;11:1014). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002477552 SCV002786815 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-11-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001573588 SCV003831417 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573588 SCV001799705 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573588 SCV001927898 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001573588 SCV001979587 uncertain significance not provided no assertion criteria provided clinical testing

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