ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.293A>T (p.Gln98Leu)

dbSNP: rs1474338260
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002045337 SCV002288646 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-05-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 98 of the PRKDC protein (p.Gln98Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRKDC-related conditions. 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.
Ambry Genetics RCV004046064 SCV002747818 uncertain significance not specified 2022-01-16 criteria provided, single submitter clinical testing The p.Q98L variant (also known as c.293A>T), located in coding exon 3 of the PRKDC gene, results from an A to T substitution at nucleotide position 293. The glutamine at codon 98 is replaced by leucine, 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.

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