ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2634_2635CT[1] (p.Ser879fs) (rs1554189720)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521095 SCV000619094 pathogenic not provided 2017-07-12 criteria provided, single submitter clinical testing The c.2636_2637delCT pathogenic variant in the NSD1 gene causes a frameshift starting with codon Serine 879, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Ser879TrpfsX16. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of Sotos syndrome in this individual.

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