Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313373 | SCV000739121 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-09-22 | criteria provided, single submitter | clinical testing | The p.D1701E variant (also known as c.5103C>A), located in coding exon 29 of the FLNA gene, results from a C to A substitution at nucleotide position 5103. The aspartic acid at codon 1701 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV002232770 | SCV000949547 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2020-02-14 | criteria provided, single submitter | clinical testing |