Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768108 | SCV000899023 | uncertain significance | Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, 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. |
Center for Genomics, |
RCV003224428 | SCV003920554 | 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 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. |