ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1087A>G (p.Ser363Gly)

dbSNP: rs2125436087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001808967 SCV002059269 uncertain significance Loeys-Dietz syndrome 2 2020-06-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001808967 SCV005425533 uncertain significance Loeys-Dietz syndrome 2 2024-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004822438 SCV005514904 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-10-01 criteria provided, single submitter clinical testing The c.1087A>G (p.S363G) alteration is located in exon 4 (coding exon 4) of the TGFBR2 gene. This alteration results from a A to G substitution at nucleotide position 1087, causing the serine (S) at amino acid position 363 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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