ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.203G>A (p.Trp68Ter)

dbSNP: rs104894325
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000005430 SCV002108005 pathogenic Hyper-IgM syndrome type 2 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 5123). This premature translational stop signal has been observed in individual(s) with autosomal recessive hyper IgM syndrome (PMID: 11007475, 14962793). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp68*) 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).
CeGaT Center for Human Genetics Tuebingen RCV003389747 SCV004134383 pathogenic not provided 2023-01-01 criteria provided, single submitter clinical testing AICDA: PVS1, PM2
OMIM RCV000005430 SCV000025612 pathogenic Hyper-IgM syndrome type 2 2000-09-01 no assertion criteria provided literature only

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