ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2760_2763del (p.Ser920fs) (rs1064794051)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483565 SCV000567678 pathogenic not provided 2015-08-14 criteria provided, single submitter clinical testing The c.2760_2763delTAAG deletion in the NSD1 gene has been reported previously in association with Sotos syndrome (Saugier-Veber et al., 2007; Rio et al., 2003). The deletion causes a frameshift starting with codon Serine 920, changes this amino acid to a Arginine residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Ser920ArgfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret c.2760_2763delTAAG as a pathogenic variant.

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