ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) (rs1563160337)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695036 SCV000823511 pathogenic Craniosynostosis 1; Saethre-Chotzen syndrome 2018-07-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TWIST1 gene (p.Lys33Alafs*85). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 170 amino acids of the TWIST1 protein. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TWIST1-related disease. A different frameshift variant (p.Ser45Argfs*189) that lies downstream of this variant has been determined to be pathogenic (Invitae). This suggests that disruption of this region of the TWIST1 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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