Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050668 | SCV001214787 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-02-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002400288 | SCV002706462 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-07-20 | criteria provided, single submitter | clinical testing | The p.V537M variant (also known as c.1609G>A), located in coding exon 10 of the FLNA gene, results from a G to A substitution at nucleotide position 1609. The valine at codon 537 is replaced by methionine, an amino acid with highly 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. |