ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) (rs1563160116)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698045 SCV000826686 pathogenic Craniosynostosis 1; Saethre-Chotzen syndrome 2018-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln101*) 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 not been reported in the literature in individuals with TWIST1-related disease. Loss-of-function variants in TWIST1 are known to be pathogenic (PMID: 10749989). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000760816 SCV000890711 likely pathogenic not provided 2018-10-17 criteria provided, single submitter clinical testing The Q101X variant in the TWIST1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 102 amino acids are lost. The Q101X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q101X as a likely pathogenic variant.

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