ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.515A>G (p.Glu172Gly)

gnomAD frequency: 0.00001  dbSNP: rs2090663873
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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 RCV001996802 SCV002226771 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 172 of the PRKDC protein (p.Glu172Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected 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 RCV004043821 SCV002641341 uncertain significance not specified 2022-10-19 criteria provided, single submitter clinical testing The p.E172G variant (also known as c.515A>G), located in coding exon 6 of the PRKDC gene, results from an A to G substitution at nucleotide position 515. The glutamic acid at codon 172 is replaced by glycine, an amino acid with similar 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.

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