ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.487C>G (p.Leu163Val)

dbSNP: rs1581574315
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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 RCV000794926 SCV000934361 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2019-05-29 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 163 of the CTLA4 protein (p.Leu163Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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