ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6563C>T (p.Thr2188Met)

gnomAD frequency: 0.00002  dbSNP: rs769574342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002014018 SCV002307316 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161199 SCV003856293 uncertain significance Cardiovascular phenotype 2022-11-01 criteria provided, single submitter clinical testing The p.T2188M variant (also known as c.6563C>T), located in coding exon 40 of the FLNC gene, results from a C to T substitution at nucleotide position 6563. The threonine at codon 2188 is replaced by methionine, an amino acid with similar properties. 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.

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