ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.5818T>C (p.Tyr1940His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706125 SCV000835157 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2018-05-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 1940 of the PRKDC protein (p.Tyr1940His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs780953775, ExAC 0.005%). This variant has been observed in an individual affected with common variable immunodeficiency (PMID: 26122175). 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: "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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