ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.338T>C (p.Leu113Pro)

dbSNP: rs1268237441
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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 RCV001222115 SCV001394198 uncertain significance Hyper-IgM syndrome type 2 2019-09-27 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 affect AICDA protein function (PMID: 22715099). This variant has been observed in individuals affected with autosomal recessive hyper IgM syndrome (PMID: 16964591). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 113 of the AICDA protein (p.Leu113Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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