ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1298C>T (p.Pro433Leu)

dbSNP: rs2090342249
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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 RCV001307561 SCV001496977 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-08-14 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with PRKDC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 433 of the PRKDC protein (p.Pro433Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Ambry Genetics RCV004847795 SCV005479488 uncertain significance not specified 2024-06-29 criteria provided, single submitter clinical testing The p.P433L variant (also known as c.1298C>T), located in coding exon 13 of the PRKDC gene, results from a C to T substitution at nucleotide position 1298. The proline at codon 433 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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