ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.6397C>G (p.Leu2133Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698800 SCV000827486 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 2133 of the PRKDC protein (p.Leu2133Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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"; PolyPhen-2: "Probably 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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