ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.4G>T (p.Ala2Ser)

gnomAD frequency: 0.00006  dbSNP: rs767352102
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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 RCV000652448 SCV000774318 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2024-12-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2 of the CTLA4 protein (p.Ala2Ser). This variant is present in population databases (rs767352102, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CTLA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 542072). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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