ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg)

dbSNP: rs1688718864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053629 SCV001217901 pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 2023-12-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 146 of the CTLA4 protein (p.Gly146Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with CTLA4-related conditions (PMID: 28960754, 29729943, 30443250, 31955317, 31993940, 32623363). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 849622). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Gly146 amino acid residue in CTLA4. Other variant(s) that disrupt this residue have been observed in individuals with CTLA4-related conditions (PMID: 27102614), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001266414 SCV001444588 likely pathogenic Inborn genetic diseases 2018-04-19 criteria provided, single submitter clinical testing

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