ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.82T>C (p.Tyr28His)

gnomAD frequency: 0.00001  dbSNP: rs199697153
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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 RCV001991407 SCV002283595 uncertain significance Hyper-IgM syndrome type 2 2022-10-06 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1495491). This variant has not been reported in the literature in individuals affected with AICDA-related conditions. This variant is present in population databases (rs199697153, gnomAD 0.006%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 28 of the AICDA protein (p.Tyr28His).

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