ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.880_881del (p.Glu294fs)

dbSNP: rs1060501492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465172 SCV000546551 pathogenic Beckwith-Wiedemann syndrome 2016-12-24 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 2 of the NSD1 mRNA (c.880_881delGA), causing a frameshift at codon 294. This creates a premature translational stop signal (p.Glu294Ilefs*19) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12807965, 15942875, 17565729). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003231492 SCV001585846 pathogenic Sotos syndrome 2016-12-24 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 2 of the NSD1 mRNA (c.880_881delGA), causing a frameshift at codon 294. This creates a premature translational stop signal (p.Glu294Ilefs*19) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12807965, 15942875, 17565729). For these reasons, this variant has been classified as Pathogenic.

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