ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.8034del (p.Pro2679fs) (rs1064794033)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480835 SCV000567637 pathogenic not provided 2015-08-27 criteria provided, single submitter clinical testing The c.8034delT deletion in the NSD1 gene causes a frameshift starting with codon Proline2679, changes this amino acid to a Glutamine residue, and replaces the last 18 amino acidswith 81 incorrect amino acids followed by a Stop codon. The frameshift is denoted asP2679QfsX82. Although this variant has not been previously reported to our knowledge, we interpret it as pathogenic.

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