Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230633 | SCV001403117 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436896 | SCV002751251 | uncertain significance | Cardiovascular phenotype | 2021-04-01 | criteria provided, single submitter | clinical testing | The p.A375T variant (also known as c.1123G>A), located in coding exon 7 of the FLNC gene, results from a G to A substitution at nucleotide position 1123. The alanine at codon 375 is replaced by threonine, an amino acid with similar properties. 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. |