ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2216C>T (p.Thr739Ile)

gnomAD frequency: 0.00002  dbSNP: rs749380628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233431 SCV001406024 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429998 SCV002728791 uncertain significance Cardiovascular phenotype 2022-07-29 criteria provided, single submitter clinical testing The p.T739I variant (also known as c.2216C>T), located in coding exon 14 of the FLNC gene, results from a C to T substitution at nucleotide position 2216. The threonine at codon 739 is replaced by isoleucine, 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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