Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001350272 | SCV001544660 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-10-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350656 | SCV002619347 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-09-22 | criteria provided, single submitter | clinical testing | The p.G1215S variant (also known as c.3643G>A), located in coding exon 21 of the FLNA gene, results from a G to A substitution at nucleotide position 3643. The glycine at codon 1215 is replaced by serine, 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. |