ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.7597C>G (p.Leu2533Val) (rs398124386)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723554 SCV000114089 uncertain significance not provided 2015-09-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146951 SCV000194284 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000473167 SCV000546558 uncertain significance Beckwith-Wiedemann syndrome 2019-04-13 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 2533 of the NSD1 protein (p.Leu2533Val). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs398124386, ExAC 0.008%). This variant has been reported in an individual affected with Sotos syndrome, as well as in the unaffected mother (PMID: 16247291). ClinVar contains an entry for this variant (Variation ID: 96078). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in the population, in an affected individual and in an unaffected parent, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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