ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092134 SCV001248509 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV001216782 SCV001388594 uncertain significance Beckwith-Wiedemann syndrome 2019-05-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1231 of the NSD1 protein (p.Gly1231Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs141065357, ExAC 0.02%). This variant has not been reported in the literature in individuals with NSD1-related conditions. 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 and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
New York Genome Center RCV001256093 SCV001432880 uncertain significance Seizures 2020-01-08 criteria provided, single submitter clinical testing

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