ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.5943del (p.Glu1980_Cys1981insTer) (rs886041734)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000393213 SCV000330473 pathogenic not provided 2016-05-10 criteria provided, single submitter clinical testing The c.5943delC pathogenic variant in the NSD1 gene causes a frameshift starting with codon Cysteine 1981 andchanges this amino acid to a premature Stop codon, denoted p.Cys1981Ter. This pathogenic variant is predicted tocause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.

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