ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala)

dbSNP: rs1559473531
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Total submissions: 2
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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 RCV000768335 SCV000899025 uncertain significance Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 2018-10-15 criteria provided, single submitter clinical testing TGFBR2 NM_003242.5 exon 7 p.Gly561Ala (c.1682G>C): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224459 SCV003920556 uncertain significance Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6 2021-03-30 criteria provided, single submitter clinical testing TGFBR2 NM_003242.5 exon 7 p.Gly561Ala (c.1682G>C): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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