ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.1212_1213del (p.Lys405fs) (rs886041217)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000388538 SCV000329434 pathogenic not provided 2016-01-12 criteria provided, single submitter clinical testing The c.1212_1213delGA pathogenic variant in the NSD1 gene causes a frameshift starting with codon Lysine 405, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Lys405ArgfsX5. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Other frameshift variants have been reported in the NSD1 gene in association with Sotos syndrome (Stenson et al., 2014).

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