ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)

dbSNP: rs104893817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001325332 SCV001516324 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2021-06-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TGFBR2 protein function. This variant has been observed in individual(s) with clinical features of TGFBR2-related conditions (PMID: 16251899, 18781618, Invitae). ClinVar contains an entry for this variant (Variation ID: 12517). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 425 of the TGFBR2 protein (p.Met425Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine.
OMIM RCV000013342 SCV000033589 pathogenic Loeys-Dietz syndrome 2 2006-01-01 no assertion criteria provided literature only

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