ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.758G>T (p.Gly253Val)

dbSNP: rs1699346690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068654 SCV001233779 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 253 of the TGFBR2 protein (p.Gly253Val). This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is expected to disrupt TGFBR2 function. ClinVar contains an entry for this variant (Variation ID: 862019). This variant has not been reported in the literature in individuals affected with TGFBR2-related conditions.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001068654 SCV003838135 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-12-16 criteria provided, single submitter clinical testing

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