ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.367T>C (p.Ser123Pro)

dbSNP: rs1554442008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598314 SCV000708510 uncertain significance not provided 2017-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532636 SCV003333825 uncertain significance TWIST1-related craniosynostosis; Saethre-Chotzen syndrome 2022-04-01 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 501963). This variant has not been reported in the literature in individuals affected with TWIST1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 123 of the TWIST1 protein (p.Ser123Pro).

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