ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.5061T>G (p.His1687Gln)

gnomAD frequency: 0.00001  dbSNP: rs1189981425
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350175 SCV001544557 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-03-09 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 histidine with glutamine at codon 1687 of the PRKDC protein (p.His1687Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine.

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