ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.4776del (p.Cys1593fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003232620 SCV002756470 likely pathogenic Sotos syndrome 2022-11-29 criteria provided, single submitter clinical testing The variant c.4776del (p.(Cys1593Valfs*49)) in exon 13 of the NSD1 gene is not found in the gnomAD database and it creates a frame shift starting at codon Cys1593. The new reading frame ends in a STOP codon at position 49. ACMG criteria used for classification: PVS1, PM2.

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