ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV001250414 SCV001364068 likely pathogenic Joubert syndrome 3 criteria provided, single submitter clinical testing We could detect the variant c.1148A>G in the AHI1 gene in your patient in a homozygous state. Bioinformatic prediction programs predict the activation of a cryptic splice donor site. Several splice site mutations in the AHI1 gene have been described as the cause of Joubert's syndrome. According to the current state of knowledge, this is a probably pathogenic mutation (class IV).

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