ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8420A>T (p.Gln2807Leu)

dbSNP: rs376185837
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217287 SCV001389121 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2023-06-19 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRKDC protein function. ClinVar contains an entry for this variant (Variation ID: 946423). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (rs376185837, gnomAD 0.006%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2807 of the PRKDC protein (p.Gln2807Leu). 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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