ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala)

gnomAD frequency: 0.00006  dbSNP: rs1319771049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822583 SCV000963392 benign Familial thoracic aortic aneurysm and aortic dissection 2023-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000822583 SCV002685977 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-05-09 criteria provided, single submitter clinical testing The p.T32A variant (also known as c.94A>G), located in coding exon 1 of the TGFBR1 gene, results from an A to G substitution at nucleotide position 94. The threonine at codon 32 is replaced by alanine, an amino acid with 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.

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