ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)

dbSNP: rs587784080
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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 RCV003231181 SCV000194101 pathogenic Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231181 SCV001203752 pathogenic Sotos syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile684Valfs*3) 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 (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with overgrowth syndrome (PMID: 28475857). ClinVar contains an entry for this variant (Variation ID: 159277). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003231181 SCV002054915 pathogenic Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing

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