ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser)

gnomAD frequency: 0.00001  dbSNP: rs780280433
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726916 SCV000250959 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Eurofins Ntd Llc (ga) RCV000726916 SCV000704144 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182793 SCV001348374 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-04-14 criteria provided, single submitter clinical testing
Invitae RCV001182793 SCV002465443 benign Familial thoracic aortic aneurysm and aortic dissection 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001182793 SCV002626083 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-09-30 criteria provided, single submitter clinical testing The p.T39S variant (also known as c.115A>T), located in coding exon 2 of the TGFBR2 gene, results from an A to T substitution at nucleotide position 115. The threonine at codon 39 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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.

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