ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs)

dbSNP: rs1765713589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226345 SCV001398657 pathogenic Beckwith-Wiedemann syndrome 2019-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1409Argfs*9) in the NSD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NSD1-related conditions. Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). For these reasons, this variant has been classified as Pathogenic.

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