Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000816539 | SCV000957054 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-06-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001561967 | SCV001784662 | likely benign | not provided | 2019-11-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427019 | SCV002729381 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-11-01 | criteria provided, single submitter | clinical testing | The p.N728S variant (also known as c.2183A>G), located in coding exon 14 of the FLNA gene, results from an A to G substitution at nucleotide position 2183. The asparagine at codon 728 is replaced by serine, 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. |