ClinVar Miner

Submissions for variant NM_003108.4(SOX11):c.356G>C (p.Arg119Pro)

dbSNP: rs749901648
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623196 SCV000742314 uncertain significance Inborn genetic diseases 2017-03-16 criteria provided, single submitter clinical testing
GeneDx RCV001569723 SCV001793855 pathogenic not provided 2020-07-09 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15254231, 24886874, 26543203)
Genetics and Molecular Pathology, SA Pathology RCV002466550 SCV002761486 uncertain significance Coffin-Siris syndrome 2020-11-19 criteria provided, single submitter clinical testing The SOX11 c.356G>C variant is classified as VUS (PS2_Supporting, PM2, PP3)

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