ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.5898_5899insG (p.Phe1967fs) (rs1554204587)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522350 SCV000619255 pathogenic not provided 2017-07-19 criteria provided, single submitter clinical testing The c.5898_5899insG variant in the NSD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Phenylalanine 1967, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Phe1967ValfsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5898_5899insG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.5898_5899insG as a pathogenic variant.

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