ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.2458C>T (p.Arg820Trp)

gnomAD frequency: 0.00001  dbSNP: rs1019925698
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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 RCV001360859 SCV001556812 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-06-16 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with PRKDC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with tryptophan at codon 820 of the PRKDC protein (p.Arg820Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan.
Ambry Genetics RCV004036779 SCV002738184 uncertain significance not specified 2024-01-03 criteria provided, single submitter clinical testing The c.2458C>T (p.R820W) alteration is located in exon 22 (coding exon 22) of the PRKDC gene. This alteration results from a C to T substitution at nucleotide position 2458, causing the arginine (R) at amino acid position 820 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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