ClinVar Miner

Submissions for variant NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln)

dbSNP: rs1349009265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV001269305 SCV001448652 likely pathogenic TCF12-related craniosynostosis 2020-11-11 criteria provided, single submitter clinical testing
GeneDx RCV002225821 SCV002504290 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing Reported in a patient who had an alternate explanation for disease (Guillen Sacoto et al., 2020) and in two siblings with a neurodevelopmental disorder who inherited the variant from an unaffected parent (Wang et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33547006, 32693025, 33004838)

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