ClinVar Miner

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

dbSNP: rs104894065
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059805 SCV001224453 pathogenic TWIST1-related craniosynostosis; Saethre-Chotzen syndrome 2019-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TWIST1 are known to be pathogenic (PMID: 10749989). 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). 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 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.
3billion RCV002283441 SCV002572713 pathogenic TWIST1-related craniosynostosis 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense) variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with TWIST1-related disorder (ClinVar ID: VCV000007984 / PMID: 12791045). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000008448 SCV000028656 pathogenic Robinow-Sorauf syndrome 2003-07-01 no assertion criteria provided literature only

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