ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.529dup (p.Tyr177fs)

dbSNP: rs1688731180
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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 RCV001314714 SCV001505258 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2024-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr177Leufs*2) in the CTLA4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the CTLA4 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of CTLA4 haploinsufficiency (PMID: 33864888). This variant is also known as c.523dupT (p.L174fs). ClinVar contains an entry for this variant (Variation ID: 1015801). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813164 SCV005438203 likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 2024-12-17 criteria provided, single submitter clinical testing

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