ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.991G>A (p.Ala331Thr)

gnomAD frequency: 0.00005  dbSNP: rs751671583
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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 RCV001062055 SCV001226827 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 331 of the PRKDC protein (p.Ala331Thr). This variant is present in population databases (rs751671583, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 856566). 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 RCV004030443 SCV003864607 uncertain significance not specified 2022-11-03 criteria provided, single submitter clinical testing The p.A331T variant (also known as c.991G>A), located in coding exon 11 of the PRKDC gene, results from a G to A substitution at nucleotide position 991. The alanine at codon 331 is replaced by threonine, 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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