ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3674A>T (p.Glu1225Val)

dbSNP: rs753345761
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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 RCV002005741 SCV002270511 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-10-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with valine at codon 1225 of the PRKDC protein (p.Glu1225Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. 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.
Ambry Genetics RCV004043245 SCV005024800 uncertain significance not specified 2023-11-24 criteria provided, single submitter clinical testing The p.E1225V variant (also known as c.3674A>T), located in coding exon 31 of the PRKDC gene, results from an A to T substitution at nucleotide position 3674. The glutamic acid at codon 1225 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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