ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) (rs878852992)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224073 SCV000280694 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765953 SCV000897374 uncertain significance Craniosynostosis 1; Robinow Sorauf syndrome; Saethre-Chotzen syndrome; SWEENEY-COX SYNDROME 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000224073 SCV000321991 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing The G32S variant in the TWIST1 gene has been reported previously in multiple unrelated individuals with a spectrum of phenotypes ranging from single suture craniosynostosis to Saethre-Chotzen syndrome (Seto et al., 2007; Foo et al., 2009; Roscioli et al., 2013); however, familial segregation analysis was not reported and/or performed for any of these cases. The G32S variant is observed in 107/42668 (0.25%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The G32S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret G32S as a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000497302 SCV000597776 uncertain significance not specified 2016-05-18 criteria provided, single submitter clinical testing

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