ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.110_115del (p.Asp37_Ser38del)

dbSNP: rs1181609421
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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 RCV002019545 SCV002283238 uncertain significance Hyper-IgM syndrome type 2 2020-12-26 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with hyper IgM syndrome (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This variant, c.110_115del, results in the deletion of 2 amino acid(s) of the AICDA protein (p.Asp37_Ser38del), but otherwise preserves the integrity of the reading frame.

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