ClinVar Miner

Submissions for variant NM_001135599.3(TGFB2):c.475C>T (p.Arg159Ter) (rs869025531)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208340 SCV000264239 likely pathogenic Loeys-Dietz syndrome 2015-06-04 criteria provided, single submitter clinical testing
Invitae RCV000634164 SCV000755463 pathogenic Holt-Oram syndrome 2019-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg131*) in the TGFB2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with thoracic aoric aneurysm or dissection (PMID: 23102774). This variant is also known as p.Arg159* in the literature. ClinVar contains an entry for this variant (Variation ID: 222832). Loss-of-function variants in TGFB2 are known to be pathogenic (PMID: 22772368). For these reasons, this variant has been classified as Pathogenic.

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