ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3257A>G (p.Tyr1086Cys)

gnomAD frequency: 0.00001  dbSNP: rs2040246227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001344580 SCV001538640 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322286 SCV002611019 uncertain significance Inborn genetic diseases 2021-07-29 criteria provided, single submitter clinical testing The p.Y1086C variant (also known as c.3257A>G), located in coding exon 27 of the PRKDC gene, results from an A to G substitution at nucleotide position 3257. The tyrosine at codon 1086 is replaced by cysteine, 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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