ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer)

dbSNP: rs1554190214
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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 RCV000549131 SCV000623201 pathogenic Beckwith-Wiedemann syndrome 2017-03-21 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 5 of the NSD1 mRNA (c.3386_3387delTT), causing a frameshift at codon 1129. This creates a premature translational stop signal (p.Phe1129*) 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 RCV003231522 SCV001579724 pathogenic Sotos syndrome 2017-02-25 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 5 of the NSD1 mRNA (c.3386_3387delTT), causing a frameshift at codon 1129. This creates a premature translational stop signal (p.Phe1129*) 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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