ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3236C>T (p.Ser1079Leu)

dbSNP: rs2551875543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224718 SCV003920356 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV004661628 SCV005151499 uncertain significance not specified 2024-06-22 criteria provided, single submitter clinical testing The p.S1079L variant (also known as c.3236C>T), located in coding exon 27 of the PRKDC gene, results from a C to T substitution at nucleotide position 3236. The serine at codon 1079 is replaced by leucine, an amino acid with dissimilar 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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