ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6421del (p.Val2141fs) (rs587784197)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482162 SCV000572432 pathogenic not provided 2016-12-19 criteria provided, single submitter clinical testing The c.6421delG variant in the NSD1 gene causes a frameshift starting with codon Valine 2141, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.V2141FfsX9. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation as the last 556 amino acids of the NSD1 protein are changed to 8 incorrect amino acids. The c.6421delG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore the presence of the c.6421delG variant is consistent with the diagnosis of Sotos syndrome in this individual.
Genetic Services Laboratory, University of Chicago RCV000146927 SCV000194256 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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