ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly)

dbSNP: rs730880223
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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 RCV002516367 SCV003265998 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 482 of the TGFBR1 protein (p.Arg482Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of TGFBR1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 180539). 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. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000157517 SCV000207262 likely pathogenic Loeys-Dietz syndrome 2014-04-11 no assertion criteria provided clinical testing

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