ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3004_3005del (p.Lys1002fs) (rs1554189941)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627408 SCV000748403 pathogenic not provided 2018-04-02 criteria provided, single submitter clinical testing The c.3004_3005delAA variant in the NSD1 gene has been reported previously in an individual with Sotos syndrome, however, familial segregation information was not included (Kotilainen et al., 2009). The c.3004_3005delAA variant causes a frameshift starting with codon Lysine 1002, changes this amino acid to a Glutamic Acid residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Lys1002GlufsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3004_3005delAA variant is not observed in large population cohorts (Lek et al., 2016). The c.3004_3005delAA variant has been previously reported as a de novo variant with confirmed parentage in a patient with an NSD1-related disorder previously tested at GeneDx. We interpret c.3004_3005delAA as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000503843 SCV000596106 pathogenic Sotos syndrome 1 2016-12-01 criteria provided, single submitter clinical testing

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