ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.9226G>A (p.Ala3076Thr)

gnomAD frequency: 0.00006  dbSNP: rs771437391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350904 SCV001545332 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-07-06 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: 1046351). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (rs771437391, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3076 of the PRKDC protein (p.Ala3076Thr).

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