Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000793885 | SCV000933263 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325504 | SCV002606423 | uncertain significance | Cardiovascular phenotype | 2023-09-13 | criteria provided, single submitter | clinical testing | The p.P1031L variant (also known as c.3092C>T), located in coding exon 20 of the FLNC gene, results from a C to T substitution at nucleotide position 3092. The proline at codon 1031 is replaced by leucine, an amino acid with similar properties. This variant has been detected in an individual from a hypertrophic cardiomyopathy cohort, and in unaffected relatives (Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |