ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.552T>A (p.Tyr184Ter)

dbSNP: rs1591743505
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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 RCV000803288 SCV000943151 uncertain significance Hyper-IgM syndrome type 2 2019-02-26 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. This nonsense variant occurs upstream of two nonsense variants (p.Val186* and p.Arg190*) that have been observed to segregate with disease in a dominant manner (PMID: 15893695, 17560278), and have been shown to have a dominant-negative effect on protein function (PMID: 12910268, 14769937, 15893695, 24591601). However, since the p.Tyr184* variant occurs upstream of these reported variants and has not been reported in the literature, it is unclear if the p.Tyr184* variant also segregates with disease in a dominant manner or has a dominant-negative effect on protein function. This variant has not been reported in the literature in individuals with AICDA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the AICDA gene (p.Tyr184*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acids of the AICDA protein.

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