ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.5162A>G (p.His1721Arg)

gnomAD frequency: 0.00002  dbSNP: rs745483541
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234003 SCV001406628 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1721 of the PRKDC protein (p.His1721Arg). This variant is present in population databases (rs745483541, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 960473). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRKDC protein function with a negative predictive value of 80%. 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.

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