ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.632G>A (p.Cys211Tyr)

dbSNP: rs1688757847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237117 SCV001409868 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2019-07-10 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 211 of the CTLA4 protein (p.Cys211Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. 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 conditions. 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: "Possibly Damaging"; 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.
Ambry Genetics RCV002567908 SCV003633858 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.632G>A (p.C211Y) alteration is located in exon 4 (coding exon 4) of the CTLA4 gene. This alteration results from a G to A substitution at nucleotide position 632, causing the cysteine (C) at amino acid position 211 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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