ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val)

dbSNP: rs730880224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003528144 SCV004305479 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TGFBR2-related conditions. 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 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: 180540). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 426 of the TGFBR2 protein (p.Ala426Val).
Blueprint Genetics RCV000157518 SCV000207263 likely pathogenic Loeys-Dietz syndrome 2014-07-21 no assertion criteria provided clinical testing

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