ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.873_876del (p.Asp290_Tyr291insTer)

dbSNP: rs1554701447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599086 SCV000710097 uncertain significance not provided 2020-10-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 503802; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a well-established mechanism of disease for Loeys-Dietz syndrome, though nonsense variants in TGFBR1 have been reported in association with multiple self-healing squamous epithelioma (MSSE) in HGMD (Stenson et al., 2014)
Labcorp Genetics (formerly Invitae), Labcorp RCV001058970 SCV001223573 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2019-01-12 criteria provided, single submitter clinical testing Loss-of-function variants in TGFBR1 are known to be pathogenic (PMID: 21358634). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with TGFBR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 503802). This sequence change creates a premature translational stop signal (p.Tyr291*) in the TGFBR1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).

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