ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1202C>T (p.Ser401Phe)

dbSNP: rs1575158141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810644 SCV000950866 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-26 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 performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is expected to disrupt TGFBR2 function. ClinVar contains an entry for this variant (Variation ID: 654639). This missense change has been observed in individual(s) with clinical features of TGFBR2-related conditions (PMID: 27879313; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 401 of the TGFBR2 protein (p.Ser401Phe).
GeneDx RCV001571560 SCV001796062 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing Reported in two patients with aortic disease registered with the Montalcino Aortic Consortium (Jondeau et al., 2016); Not observed in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 654639; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27879313, 9395234)

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