ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter)

dbSNP: rs387906697
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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 RCV000474057 SCV000548344 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg414*) in the TGFBR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TGFBR1 are known to be pathogenic (PMID: 21358634). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with multiple self-healing squamous epithelioma (PMID: 21358634). ClinVar contains an entry for this variant (Variation ID: 29918). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000022805 SCV000044094 risk factor Multiple self-healing squamous epithelioma 2011-02-27 no assertion criteria provided literature only

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