ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.7652A>T (p.Glu2551Val)

dbSNP: rs2088048731
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216685 SCV001388494 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-07-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 945929). 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. This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 2551 of the PRKDC protein (p.Glu2551Val).

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