ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys)

gnomAD frequency: 0.00002  dbSNP: rs144701411
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000263258 SCV000442871 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315631 SCV000442872 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354050 SCV000442873 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000315631 SCV003459858 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-09-22 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 experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt TGFBR2 protein function. ClinVar contains an entry for this variant (Variation ID: 344661). This variant is also known as c.1117C>T, p.Arg373Cys. This missense change has been observed in individual(s) with clinical features of TGFBR2-related conditions (PMID: 29907982). This variant is present in population databases (rs144701411, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 348 of the TGFBR2 protein (p.Arg348Cys).

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