ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.355C>T (p.Arg119Cys)

gnomAD frequency: 0.00001  dbSNP: rs760513969
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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 RCV001309667 SCV001499173 uncertain significance Hyper-IgM syndrome type 2 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 119 of the AICDA protein (p.Arg119Cys). This variant is present in population databases (rs760513969, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with AICDA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1011811). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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