ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.1535G>T (p.Gly512Val) (rs549230210)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652370 SCV000774240 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2017-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 512 of the PRKDC protein (p.Gly512Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs549230210, ExAC 0.001%). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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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