ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1480C>G (p.Pro494Ala)

gnomAD frequency: 0.00003  dbSNP: rs771708028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360269 SCV001556180 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-01-07 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1052141). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (rs771708028, gnomAD 0.05%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 494 of the PRKDC protein (p.Pro494Ala).
Ambry Genetics RCV002395799 SCV002702539 uncertain significance Inborn genetic diseases 2021-06-21 criteria provided, single submitter clinical testing The p.P494A variant (also known as c.1480C>G), located in coding exon 14 of the PRKDC gene, results from a C to G substitution at nucleotide position 1480. The proline at codon 494 is replaced by alanine, 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.

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