ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) (rs121909188)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706654 SCV000835719 pathogenic Craniosynostosis 1; Saethre-Chotzen syndrome 2018-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu126*) in the TWIST1 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 observed in families and individuals affected with Saethre-Chotzen syndrome (PMID: 8988167, 24127277, 10649491, 19373776, 20643727). ClinVar contains an entry for this variant (Variation ID: 7977). Loss-of-function variants in TWIST1 are known to be pathogenic (PMID: 10749989). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008441 SCV000028649 pathogenic Saethre-Chotzen syndrome 2017-10-26 no assertion criteria provided literature only

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