ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3063_3064del (p.Cys1021fs)

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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 RCV003232702 SCV003238170 pathogenic Sotos syndrome 2022-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1021Trpfs*25) in the NSD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NSD1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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