Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004057174 | SCV002702527 | uncertain significance | not specified | 2021-08-24 | criteria provided, single submitter | clinical testing | The p.S47I variant (also known as c.140G>T), located in coding exon 1 of the PRKDC gene, results from a G to T substitution at nucleotide position 140. The serine at codon 47 is replaced by isoleucine, an amino acid with dissimilar 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. |
| Labcorp Genetics |
RCV003095115 | SCV002967737 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2022-10-05 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 47 of the PRKDC protein (p.Ser47Ile). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. |