ClinVar Miner

Submissions for variant NM_003238.5(TGFB2):c.544C>T (p.Gln182Ter) (rs730880221)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008708 SCV001168487 likely pathogenic not provided 2019-09-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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 a known mechanism of disease
Invitae RCV001050086 SCV001214174 pathogenic Holt-Oram syndrome 2020-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln182*) 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 not been reported in the literature in individuals with TGFB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 180536). Loss-of-function variants in TGFB2 are known to be pathogenic (PMID: 22772368, 22772371). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000157514 SCV000207259 likely pathogenic Loeys-Dietz syndrome 2014-08-01 no assertion criteria provided clinical testing

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