ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.328C>G (p.Arg110Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003802895 SCV004592903 uncertain significance TWIST1-related craniosynostosis; Saethre-Chotzen syndrome 2023-01-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 110 of the TWIST1 protein (p.Arg110Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with TWIST1-related conditions (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant disrupts the p.Arg110 amino acid residue in TWIST1. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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