ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.11029C>T (p.Pro3677Ser)

gnomAD frequency: 0.00051  dbSNP: rs55924155
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513572 SCV000609304 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000652349 SCV000774219 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3677 of the PRKDC protein (p.Pro3677Ser). This variant is present in population databases (rs55924155, gnomAD 0.07%). 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: 444752). 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000513572 SCV003799061 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing PP2, PP3
Ambry Genetics RCV004659078 SCV005151424 uncertain significance not specified 2024-04-20 criteria provided, single submitter clinical testing The p.P3677S variant (also known as c.11029C>T), located in coding exon 77 of the PRKDC gene, results from a C to T substitution at nucleotide position 11029. The proline at codon 3677 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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