ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.7748del (p.Met2583fs) (rs1562311573)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698117 SCV000826760 uncertain significance Beckwith-Wiedemann syndrome 2018-06-23 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NSD1 gene (p.Met2583Argfs*36). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 114 amino acids of the NSD1 protein. 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 disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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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