ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2150_2151AG[1] (p.Ser718fs) (rs1064796161)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485139 SCV000572628 pathogenic not provided 2017-01-16 criteria provided, single submitter clinical testing The c.2152_2153delAG pathogenic variant in the NSD1 gene causes a frameshift starting with codon Serine 718, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Ser718CysfsX11. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2152_2153delAG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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