ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.155G>T (p.Gly52Val)

dbSNP: rs1688712533
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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 RCV001914386 SCV002194097 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2021-06-24 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with clinical features of CTLA4 haploinsufficiency (PMID: 29729943). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 52 of the CTLA4 protein (p.Gly52Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.

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