ClinVar Miner

Submissions for variant NC_000010.9:g.87887949_90299688del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory,Aldo Moro University of Bari RCV000509569 SCV000537200 pathogenic Chromosome 10q22.3-q23.2 deletion syndrome 2016-12-21 no assertion criteria provided clinical testing First case of multiple autoimmune disorders, associated with Juvenile Polyposis and epilepsy, in a patient with a de novo heterozygous germline 10q23.1-q23.31 deletion. This deletion disrupts GRID1 and RNLS (on breakpoints), and involves 32 annotated genes and transcripts, seven of which (i.e. PTEN, BMPR1A, LDB3, GLUD1, MIMPP1, PAPSS2 and KLLN) are associated with human diseases. Patients with JP due to 10q23 deletions appear at increased risk of developing not only thyroid, but also gastrointestinal autoimmune disorders, an aspect that has to be carefully considered in the multidisciplinary patient management, for the associated systemic short- and long-term health consequences.

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