ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.441C>A (p.Cys147Ter)

gnomAD frequency: 0.00001  dbSNP: rs104894323
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003333949 SCV004042536 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing AICDA: PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV000005434 SCV004295835 pathogenic Hyper-IgM syndrome type 2 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys147*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive hyper-IgM syndrome (PMID: 11007475). ClinVar contains an entry for this variant (Variation ID: 5127). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005434 SCV000025616 pathogenic Hyper-IgM syndrome type 2 2000-09-01 no assertion criteria provided literature only

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