ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.353A>C (p.Asp118Ala)

dbSNP: rs1941266008
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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 RCV001053841 SCV001218123 uncertain significance Hyper-IgM syndrome type 2 2021-07-22 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 been reported to have conflicting or insufficient data to determine the effect on AICDA protein function (PMID: 25064858). This variant has not been reported in the literature in individuals with AICDA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with alanine at codon 118 of the AICDA protein (p.Asp118Ala). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and alanine.

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