ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.3368C>T (p.Thr1123Ile) (rs1563792638)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699941 SCV000828674 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2018-02-09 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1123 of the PRKDC protein (p.Thr1123Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with 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"; Align-GVGD: "Class C0"). 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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