ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1646C>T (p.Ala549Val)

gnomAD frequency: 0.00002  dbSNP: rs370809936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246238 SCV001419579 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393653 SCV002703432 uncertain significance Inborn genetic diseases 2022-10-31 criteria provided, single submitter clinical testing The p.A549V variant (also known as c.1646C>T), located in coding exon 16 of the PRKDC gene, results from a C to T substitution at nucleotide position 1646. The alanine at codon 549 is replaced by valine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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