Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001344580 | SCV001538640 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002322286 | SCV002611019 | uncertain significance | Inborn genetic diseases | 2021-07-29 | criteria provided, single submitter | clinical testing | The p.Y1086C variant (also known as c.3257A>G), located in coding exon 27 of the PRKDC gene, results from an A to G substitution at nucleotide position 3257. The tyrosine at codon 1086 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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. |