ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.511A>G (p.Ser171Gly)

gnomAD frequency: 0.00004  dbSNP: rs767581059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547310 SCV000658833 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-11-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 171 of the TGFBR2 protein (p.Ser171Gly). This variant is present in population databases (rs767581059, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TGFBR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 477548). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) did not meet the statistical confidence thresholds required to predict the impact of this variant on TGFBR2 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.
GeneDx RCV001578255 SCV001805809 uncertain significance not provided 2020-12-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 477548; Landrum et al., 2016)

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