Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868360 | SCV001009678 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408867 | SCV002716853 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-06-22 | criteria provided, single submitter | clinical testing | The p.V591I variant (also known as c.1771G>A), located in coding exon 11 of the FLNA gene, results from a G to A substitution at nucleotide position 1771. The valine at codon 591 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly 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. |
Department of Pediatrics, |
RCV001252920 | SCV001164063 | uncertain significance | Microcephaly | no assertion criteria provided | research |