ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.7204C>T (p.Leu2402Phe) (rs374403400)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507408 SCV000604916 uncertain significance not specified 2016-04-06 criteria provided, single submitter clinical testing
Invitae RCV000685076 SCV000812548 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 2402 of the PRKDC protein (p.Leu2402Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs374403400, ExAC 0.1%). This variant has not been reported in the literature in individuals with PRKDC-related disease. ClinVar contains an entry for this variant (Variation ID: 440192). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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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