Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313358 | SCV000739091 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-01-09 | criteria provided, single submitter | clinical testing | The p.M1403V variant (also known as c.4207A>G), located in coding exon 24 of the FLNA gene, results from an A to G substitution at nucleotide position 4207. The methionine at codon 1403 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not 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. |
Invitae | RCV001052134 | SCV001216330 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003238784 | SCV003936260 | uncertain significance | not provided | 2022-12-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |