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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