ClinVar Miner

Submissions for variant NM_003239.5(TGFB3):c.621del (p.Val208fs)

dbSNP: rs2140245186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593503 SCV001816530 pathogenic not provided 2021-06-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Frameshift 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; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV002573327 SCV002181716 pathogenic Rienhoff syndrome 2021-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val208Cysfs*6) in the TGFB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TGFB3 are known to be pathogenic (PMID: 25835445, 26188975). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TGFB3-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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