ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.370A>C (p.Thr124Pro)

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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 RCV002651589 SCV003525188 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 124 of the CTLA4 protein (p.Thr124Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of CTLA4 haploinsufficiency (PMID: 25329329, 35753512). ClinVar contains an entry for this variant (Variation ID: 2203245). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects CTLA4 function (PMID: 25329329). 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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