ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr) (rs1559458957)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768108 SCV000899023 uncertain significance Loeys-Dietz syndrome 2; Hereditary nonpolyposis colorectal cancer type 6 2018-08-23 criteria provided, single submitter clinical testing TGFBR2 NM_003242.5 exon 3 c.413G>A (p.Cys138Tyr): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. Of note, another variant at this same codon (p.Cys138Arg) has been reported in the literature (Pezzini 2014 PMID:21270064), suggesting that this region has significance. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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