ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.430G>T (p.Gly144Cys)

dbSNP: rs1559591850
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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 RCV000699583 SCV000828301 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2018-06-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 144 of the CTLA4 protein (p.Gly144Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CTLA4-related disease. 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. 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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