ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.281T>C (p.Val94Ala)

dbSNP: rs2136431874
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002210918 SCV002496101 uncertain significance Hyper-IgM syndrome type 2 2021-03-04 criteria provided, single submitter clinical testing AICDA NM_020661.2 exon 3 p.Val94Ala (c.281T>C): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation for this variant is unclear; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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