ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.595T>A (p.Ter199Arg)

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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 RCV003006174 SCV003309459 uncertain significance Hyper-IgM syndrome type 2 2022-03-29 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 variant has not been reported in the literature in individuals affected with AICDA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the AICDA mRNA. It is expected to extend the length of the AICDA protein by 1 additional amino acid residues.

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