ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3931A>G (p.Lys1311Glu)

gnomAD frequency: 0.00009  dbSNP: rs764358542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000884330 SCV001027699 likely benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354715 SCV002621730 uncertain significance Inborn genetic diseases 2021-12-30 criteria provided, single submitter clinical testing The p.K1311E variant (also known as c.3931A>G), located in coding exon 32 of the PRKDC gene, results from an A to G substitution at nucleotide position 3931. The lysine at codon 1311 is replaced by glutamic acid, an amino acid with 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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