ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6487C>T (p.Gln2163Ter) (rs1060501494)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457232 SCV000546553 pathogenic Beckwith-Wiedemann syndrome 2016-12-17 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the NSD1 mRNA at codon 2163 (p.Gln2163*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 534 amino acids of the NSD1 protein. This variant has not been reported in the literature in individuals with a NSD1-related disease. Several different variants downstream of this variant (such as p.Cys2183Ser, p.Arg2187*, and c.7514delA) have been determined to be pathogenic (PMID: 12464997, 16247291, 15742365). This suggests that deletion of this region of the NSD1 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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