Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578553 | SCV000681351 | uncertain significance | not provided | 2018-01-17 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the TGFBR2 gene. The c.-27 G>C variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.-27 G>C variant is located in the 5' untranslated region of the TGFBR2 gene at a nucleotide that is conserved through mammals. Other variants in the 5' regulatory region of the TGFBR2 gene have been reported in HGMD in association with TGFBR2-related disorders (Stenson et al., 2014). However, this variant does not create a new start codon and does not alter the Kozak sequence. Nevertheless, the in absence of functional studies the consequence of the c.-27 G>C variant cannot be precisely determined. |