ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.8857A>T (p.Thr2953Ser) (rs369402631)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549280 SCV000655401 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2019-12-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 2953 of the PRKDC protein (p.Thr2953Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs369402631, ExAC 0.02%). This variant has not been reported in the literature in individuals with a PRKDC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on PRKDC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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