ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter) (rs104894065)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059805 SCV001224453 pathogenic Craniosynostosis 1; Saethre-Chotzen syndrome 2019-03-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln71*) in the TWIST1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in several individuals affected with Saethre-Chotzen syndrome (PMID: 12791045, 18391498, 16251895). ClinVar contains an entry for this variant (Variation ID: 7984). Loss-of-function variants in TWIST1 are known to be pathogenic (PMID: 10749989). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008448 SCV000028656 pathogenic Robinow-Sorauf syndrome 2003-07-01 no assertion criteria provided literature only

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