ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.46G>A (p.Val16Met)

gnomAD frequency: 0.00055  dbSNP: rs1021523079
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545217 SCV000658850 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001540217 SCV001471491 likely benign not provided 2020-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001540217 SCV001758076 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000545217 SCV002637862 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-09-24 criteria provided, single submitter clinical testing The p.V16M variant (also known as c.46G>A), located in coding exon 1 of the TGFBR1 gene, results from a G to A substitution at nucleotide position 46. The valine at codon 16 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323614 SCV004028890 uncertain significance not specified 2023-07-21 criteria provided, single submitter clinical testing

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