ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln)

dbSNP: rs121918714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688883 SCV000816510 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2023-05-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 526 of the TGFBR2 protein (p.Glu526Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Loeys-Dietz syndrome (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 12503). 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. Experimental studies have shown that this missense change affects TGFBR2 function (PMID: 7664267, 10789724, 18339844). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013326 SCV000033573 pathogenic Malignant tumor of esophagus 2000-05-01 no assertion criteria provided literature only

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