ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.400G>A (p.Val134Met)

gnomAD frequency: 0.00001  dbSNP: rs730880222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000157516 SCV002940359 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 134 of the TGFBR1 protein (p.Val134Met). This variant is not present in population databases (gnomAD 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: 180538). 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.
Blueprint Genetics RCV000157516 SCV000207261 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2014-11-07 no assertion criteria provided clinical testing

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