Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003294170 | SCV004005279 | uncertain significance | Cardiovascular phenotype | 2023-05-29 | criteria provided, single submitter | clinical testing | The p.D555N variant (also known as c.1663G>A), located in coding exon 10 of the SOS1 gene, results from a G to A substitution at nucleotide position 1663. The aspartic acid at codon 555 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |
Service de Génétique Moléculaire, |
RCV001261088 | SCV001438490 | likely benign | Noonan syndrome | no assertion criteria provided | clinical testing |