ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.10013C>T (p.Ala3338Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064882 SCV001229814 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 3338 of the PRKDC protein (p.Ala3338Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs576578016, ExAC 0.02%). This variant has not been reported in the literature in individuals with PRKDC-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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