ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.10244C>T (p.Thr3415Met)

gnomAD frequency: 0.00015  dbSNP: rs370050708
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207794 SCV001379161 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-01-23 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 3415 of the PRKDC protein (p.Thr3415Met). This variant is present in population databases (rs370050708, gnomAD 0.05%). 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: 938551). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRKDC protein function. 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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