ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.305C>T (p.Pro102Leu)

dbSNP: rs1565509610
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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 RCV000701166 SCV000829952 uncertain significance Hyper-IgM syndrome type 2 2023-02-25 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 578221). This variant has not been reported in the literature in individuals affected with AICDA-related conditions. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 102 of the AICDA protein (p.Pro102Leu).

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