ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) (rs149141477)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242279 SCV000319278 uncertain significance Cardiovascular phenotype 2020-04-15 criteria provided, single submitter clinical testing The p.A217P variant (also known as c.649G>C), located in coding exon 4 of the TGFBR2 gene, results from a G to C substitution at nucleotide position 649. The alanine at codon 217 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660320 SCV000782364 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000983821 SCV001131848 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Color Health, Inc RCV000660320 SCV001356686 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-30 criteria provided, single submitter clinical testing
Invitae RCV000660320 SCV001645933 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000983821 SCV001756851 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function

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