ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.312G>A (p.Thr104=)

gnomAD frequency: 0.00004  dbSNP: rs770065318
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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 RCV001313368 SCV001503861 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2022-02-02 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1014611). This variant has not been reported in the literature in individuals affected with CTLA4-related conditions. This variant is present in population databases (rs770065318, gnomAD 0.01%). This sequence change affects codon 104 of the CTLA4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CTLA4 protein.

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