ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.4371G>T (p.Gln1457His)

dbSNP: rs761154232
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218781 SCV001390684 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-08-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1457 of the PRKDC protein (p.Gln1457His). This variant is present in population databases (rs761154232, gnomAD 0.1%). 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: 947665). 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.

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