ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.349C>T (p.Gln117Ter)

dbSNP: rs1688716836
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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 RCV001057860 SCV001222376 pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2022-09-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 853113). This variant has not been reported in the literature in individuals affected with CTLA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln117*) in the CTLA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTLA4 are known to be pathogenic (PMID: 25213377, 25329329).

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