ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr)

dbSNP: rs1553657430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000585701 SCV001589652 pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 2023-04-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CTLA4 function (PMID: 26478010). 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. ClinVar contains an entry for this variant (Variation ID: 495051). This missense change has been observed in individual(s) with CTLA4 haploinsufficiency (PMID: 26478010). In at least one individual the variant was observed to be de novo. 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 138 of the CTLA4 protein (p.Pro138Thr).
Choi Lab, Seoul National University RCV000585701 SCV000693446 pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 2016-01-01 no assertion criteria provided research

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