ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3122C>G (p.Thr1041Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002320507 SCV002607937 uncertain significance Cardiovascular phenotype 2023-12-07 criteria provided, single submitter clinical testing The p.T1041S variant (also known as c.3122C>G), located in coding exon 20 of the FLNC gene, results from a C to G substitution at nucleotide position 3122. The threonine at codon 1041 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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.
Invitae RCV003775049 SCV004580658 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-09 criteria provided, single submitter clinical testing

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