ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1271A>G (p.Tyr424Cys)

dbSNP: rs878854610
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234122 SCV000287920 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2022-07-06 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. ClinVar contains an entry for this variant (Variation ID: 239528). This missense change has been observed in individual(s) with clinical features of TGFBR2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 424 of the TGFBR2 protein (p.Tyr424Cys).

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