ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) (rs104893813)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193761 SCV001362855 likely pathogenic Loeys-Dietz syndrome 2019-06-24 criteria provided, single submitter clinical testing Variant summary: TGFBR2 c.1063G>C (p.Ala355Pro) results in a non-conservative amino acid change located in the Serine-threonine/tyrosine-protein kinase, catalytic domain (IPR001245) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 245344 control chromosomes (gnomAD and Loeys_2005). c.1063G>C has been reported in the literature in individuals affected with Loeys-Dietz Syndrome (Loeys_2005). These data indicate that the variant may be associated with disease. One study demonstrated intracellular accumulation of collagen type I in fibroblasts collected from the patient carrying this variant (Barnett_2011). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253567 SCV001429354 uncertain significance Hereditary nonpolyposis colorectal cancer type 6 2019-12-10 criteria provided, single submitter clinical testing
OMIM RCV000013333 SCV000033580 pathogenic Loeys-Dietz syndrome 2 2005-03-01 no assertion criteria provided literature only

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