ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter)

dbSNP: rs587784142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV003231263 SCV000194198 pathogenic Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000760587 SCV000890478 pathogenic not provided 2024-07-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003231263 SCV002054949 pathogenic Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing

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