ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.8662G>C (p.Val2888Leu) (rs185741285)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813535 SCV000953898 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2019-12-24 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 2888 of the PRKDC protein (p.Val2888Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs185741285, ExAC 0.2%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Baylor Genetics RCV000813535 SCV001528656 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2018-11-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702719 SCV001927138 likely benign not provided no assertion criteria provided clinical testing

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