ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)

dbSNP: rs2136431608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003232560 SCV002512614 likely pathogenic Hyper-IgM syndrome type 2 2022-02-11 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderate
Labcorp Genetics (formerly Invitae), Labcorp RCV003232560 SCV004464139 pathogenic Hyper-IgM syndrome type 2 2023-05-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1683704). This variant has not been reported in the literature in individuals affected with AICDA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln135*) in the AICDA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AICDA are known to be pathogenic (PMID: 11007475).

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