ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.502C>T (p.Arg168Cys)

gnomAD frequency: 0.00001  dbSNP: rs1057519144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415841 SCV000493321 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV001865304 SCV002200316 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 168 of the TGFBR1 protein (p.Arg168Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TGFBR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 374537). 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 not expected to disrupt TGFBR1 protein function. 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.

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