ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.20C>G (p.Ala7Gly)

dbSNP: rs863223802
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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 RCV001235373 SCV001408055 benign Familial thoracic aortic aneurysm and aortic dissection 2023-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001235373 SCV005172199 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-05-13 criteria provided, single submitter clinical testing The p.A7G variant (also known as c.20C>G), located in coding exon 1 of the TGFBR1 gene, results from a C to G substitution at nucleotide position 20. The alanine at codon 7 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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