ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6572C>T (p.Thr2191Met)

gnomAD frequency: 0.00001  dbSNP: rs768329311
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482064 SCV000573597 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing The T2191M variant in the FLNC gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T2191M variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T2191M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret T2191M as a variant of uncertain significance.
Invitae RCV000689890 SCV000817560 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023206 SCV003891970 uncertain significance Cardiovascular phenotype 2023-12-15 criteria provided, single submitter clinical testing The p.T2191M variant (also known as c.6572C>T), located in coding exon 40 of the FLNC gene, results from a C to T substitution at nucleotide position 6572. The threonine at codon 2191 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. 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.

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