ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3632T>A (p.Val1211Asp)

dbSNP: rs2089506122
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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 RCV001341072 SCV001534911 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2023-07-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1211 of the PRKDC protein (p.Val1211Asp). This variant is not present in population databases (gnomAD no frequency). 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: 1037855). 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 expected to disrupt 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.
GenomeConnect - Invitae Patient Insights Network RCV001341072 SCV004228754 not provided Severe combined immunodeficiency due to DNA-PKcs deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-23-2020 by Lab Invitae. The variant is reported as possibly moasic in this individual. 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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