ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs)

dbSNP: rs1554189490
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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 RCV000471287 SCV000546546 pathogenic Beckwith-Wiedemann syndrome 2016-06-24 criteria provided, single submitter clinical testing This sequence change inserts 14 nucleotides in exon 5 of the NSD1 mRNA (c.2316_2329dup14), causing a frameshift at codon 777. This creates a premature translational stop signal (p.Leu777Glnfs*19) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating 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 RCV003231620 SCV001588416 pathogenic Sotos syndrome 2016-06-24 criteria provided, single submitter clinical testing This sequence change inserts 14 nucleotides in exon 5 of the NSD1 mRNA (c.2316_2329dup14), causing a frameshift at codon 777. This creates a premature translational stop signal (p.Leu777Glnfs*19) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating 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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