ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser)

dbSNP: rs1588598651
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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 RCV000807802 SCV000947876 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 482 of the TGFBR1 protein (p.Arg482Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TGFBR1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Baylor Genetics RCV001336712 SCV001530174 likely pathogenic Loeys-Dietz syndrome 1 2018-11-27 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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