ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.596G>A (p.Arg199Lys)

dbSNP: rs397517032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038240 SCV000061908 uncertain significance not specified 2011-11-02 criteria provided, single submitter clinical testing
Invitae RCV001348922 SCV001543248 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-31 criteria provided, single submitter clinical testing 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 TGFBR1 protein function. ClinVar contains an entry for this variant (Variation ID: 45098). This missense change has been observed in individual(s) with clinical features of Loeys Dietz syndrome (PMID: 24793577). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 199 of the TGFBR1 protein (p.Arg199Lys).

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