Total submissions: 2
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. |