ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.460C>A (p.Pro154Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002937498 SCV003259443 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2022-09-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 154 of the CTLA4 protein (p.Pro154Thr). This variant has not been reported in the literature in individuals affected with CTLA4-related conditions. 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: "Benign"; Align-GVGD: "Class C35"). 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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