ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.5699del (p.Thr1900fs) (rs1064793705)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480541 SCV000566830 pathogenic not provided 2015-06-17 criteria provided, single submitter clinical testing The c.5699delC deletion in the NSD1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.5699delC deletion causes a frameshiftstarting with codon Threonine 1900, changes this amino acid to a Methionine residue, and creates apremature Stop codon at position 8 of the new reading frame, denoted p.Thr1900MetfsX8. This variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediatedmRNA decay. The c.5699delC deletion was not observed in approximately 6500 individuals of Europeanand African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations. We interpret c.5699delC as a pathogenic variant.

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