ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter)

dbSNP: rs1554189131
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558545 SCV000623193 pathogenic Beckwith-Wiedemann syndrome 2017-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 606 (p.Lys606*) of the NSD1 gene. It 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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