ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.268A>G (p.Met90Val)

gnomAD frequency: 0.00003  dbSNP: rs370443546
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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 RCV000689079 SCV000816717 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2022-06-20 criteria provided, single submitter clinical testing 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. 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 tolerated. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 90 of the CTLA4 protein (p.Met90Val). This variant is present in population databases (rs370443546, gnomAD 0.0009%). 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: 568653).

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