ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, National Institute of Health RCV003459832 SCV003935263 pathogenic Sotos syndrome criteria provided, single submitter clinical testing The p.Cys1643Ser variant on the NSD1 is classified as Likely pathogenic according to the ACMG guidelines. It complies with the PP3, PM1, and PM2 criteria. It was detected via Clinical Exome Sequencing in male patient with typical Sotos syndrome phenotype. Therefore, it is associated to the phenotype of our pateint and meets our criteria to be classified as pathogenic.

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