ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.145C>T (p.Gln49Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066105 SCV001231102 uncertain significance Beckwith-Wiedemann syndrome 2019-12-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NSD1 gene (p.Gln49*). However, it is currently unclear if variants that occur in this region of the gene cause disease. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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