ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser)

dbSNP: rs1581573923
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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 RCV001976036 SCV002252864 likely pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2023-02-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 1472488). This missense change has been observed in individual(s) with CTLA4 haploinsufficiency (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 139 of the CTLA4 protein (p.Tyr139Ser).

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