ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.4819_4820dup (p.Leu1608fs) (rs1554199392)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483435 SCV000572650 pathogenic not provided 2017-01-16 criteria provided, single submitter clinical testing The c.4819_4820dupCT pathogenic variant in the NSD1 gene causes a frameshift starting with codon Leucine 1608, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Leu1608PhefsX35. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the c.4819_4820dupCT 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, the presence of c.4819_4820dupCT is consistent with a diagnosis of Sotos syndrome.

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