ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1187T>C (p.Phe396Ser)

dbSNP: rs2090353585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332851 SCV001525286 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-02-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035751 SCV002635737 uncertain significance not specified 2021-07-31 criteria provided, single submitter clinical testing The p.F396S variant (also known as c.1187T>C), located in coding exon 12 of the PRKDC gene, results from a T to C substitution at nucleotide position 1187. The phenylalanine at codon 396 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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