ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr)

dbSNP: rs1827899415
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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 RCV001067795 SCV001232875 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-01-14 criteria provided, single submitter clinical testing 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: 861293). 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 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. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 474 of the TGFBR1 protein (p.Cys474Tyr).
MGZ Medical Genetics Center RCV002290582 SCV002579556 likely pathogenic Loeys-Dietz syndrome 1 2021-10-29 criteria provided, single submitter clinical testing

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