ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.-4G>A

gnomAD frequency: 0.00003  dbSNP: rs1007933061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000756776 SCV000516719 likely benign not provided 2023-03-15 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002313044 SCV000739754 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-10-12 criteria provided, single submitter clinical testing The c.-4G>A variant is located in the 5' untranslated region (5’ UTR) of the TGFBR1 gene. This variant results from a G to A substitution 4 bases upstream from the first translated codon. This nucleotide position is highly conserved on limited sequence alignment. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756776 SCV000884686 likely benign not provided 2017-09-12 criteria provided, single submitter clinical testing

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