ClinVar Miner

Submissions for variant NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)

dbSNP: rs1555755308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000723358 SCV000930059 likely pathogenic Inflammatory bowel disease, immunodeficiency, and encephalopathy 2019-02-27 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Inflammatory bowel disease, immunodeficiency, and encephalopathy, autosomal recessive. The following ACMG Tag(s) were applied: PM2: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3-Moderate : PS3 downgraded in strength to Moderate (PMID:29483653). PP1 : Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:29483653).
Klein lab, Ludwig-Maximilians-University RCV000584758 SCV000622112 pathogenic Encephalopathy; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome 2017-01-01 no assertion criteria provided research Variant is associated with primary immunodeficiency, inflammatory bowel disease and encephalopathy.
OMIM RCV000723358 SCV000854758 pathogenic Inflammatory bowel disease, immunodeficiency, and encephalopathy 2018-12-04 no assertion criteria provided literature only

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