Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316810 | SCV000850561 | uncertain significance | Inborn genetic diseases | 2017-05-26 | criteria provided, single submitter | clinical testing | The p.P531S variant (also known as c.1591C>T), located in coding exon 10 of the DYRK1A gene, results from a C to T substitution at nucleotide position 1591. The proline at codon 531 is replaced by serine, an amino acid with some 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. |
Invitae | RCV001868362 | SCV002220085 | benign | DYRK1A-related intellectual disability syndrome | 2023-09-06 | criteria provided, single submitter | clinical testing |