ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.10033C>A (p.Pro3345Thr)

gnomAD frequency: 0.00009  dbSNP: rs374825096
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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 RCV001909095 SCV002173790 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3345 of the PRKDC protein (p.Pro3345Thr). This variant is present in population databases (rs374825096, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GenomeConnect - Invitae Patient Insights Network RCV001909095 SCV004228859 not provided Severe combined immunodeficiency due to DNA-PKcs deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 02-03-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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