ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.896C>T (p.Thr299Ile)

gnomAD frequency: 0.00002  dbSNP: rs774743325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071746 SCV001237066 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375004 SCV002683997 uncertain significance Cardiovascular phenotype 2023-03-16 criteria provided, single submitter clinical testing The p.T299I variant (also known as c.896C>T), located in coding exon 5 of the FLNC gene, results from a C to T substitution at nucleotide position 896. The threonine at codon 299 is replaced by isoleucine, an amino acid with similar properties. This alteration was reported in a subject with hypertrophic cardiomyopathy (HCM) who also carried alteration in another cardiac-related gene (Cui H et al. Mol Genet Genomic Med, 2018 11;6:1104-1113). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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