ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.2889_2890del (p.His963fs)

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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 RCV003232621 SCV002758033 likely pathogenic Sotos syndrome 2022-12-05 criteria provided, single submitter clinical testing The variant c.2889_2890del (p.(His963Glnfs*16)) in exon 5 of the NSD1 gene is not found in the gnomAD database and it creates a frame shift starting at codon His963. The new reading frame ends in a STOP codon at position 16. ACMG criteria used for classification: PVS1, PM2.

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