ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.322A>C (p.Ile108Leu)

gnomAD frequency: 0.00001  dbSNP: rs368645130
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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 RCV000639378 SCV000760950 uncertain significance Hyper-IgM syndrome type 2 2017-12-04 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with AICDA-related disease. This variant is present in population databases (rs368645130, ExAC 0.002%). This sequence change replaces isoleucine with leucine at codon 108 of the AICDA protein (p.Ile108Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine.

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