ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.-27G>C

gnomAD frequency: 0.00001  dbSNP: rs1469986980
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

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