ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6049C>T (p.Arg2017Trp) (rs587784176)

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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 RCV000146905 SCV000194234 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724072 SCV000227715 pathogenic not provided 2014-07-15 criteria provided, single submitter clinical testing
Invitae RCV000628547 SCV000749449 pathogenic Beckwith-Wiedemann syndrome 2018-02-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 2017 of the NSD1 protein (p.Arg2017Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with Sotos syndrome and was apparently de novo in at least two of them (PMID: 12807965, 15942875, 26690673). ClinVar contains an entry for this variant (Variation ID: 159397). Experimental studies have shown that this missense change abolishes enzyme NSD1 activity in vitro (PMID: 24412544). For these reasons, this variant has been classified as Pathogenic.

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