ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.173G>C (p.Cys58Ser)

dbSNP: rs1581573671
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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 RCV000797058 SCV000936597 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2022-07-18 criteria provided, single submitter clinical testing 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 643372). This missense change has been observed in individual(s) with clinical features of CTLA4 haploinsufficiency (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 58 of the CTLA4 protein (p.Cys58Ser). 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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