Table 6.

Notable GNB1 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_002074​.4
NP_002065​.1 		c.233A>Gp.Lys78ArgRecurrent pathogenic variant [Petrovski et al 2016, Hemati et al 2018]
c.239T>Cp.Ile80ThrRecurrent pathogenic variant [Petrovski et al 2016, Hemati et al 2018, Endo et al 2020]
c.239T>Ap.Ile80AsnRecurrent pathogenic variant [Petrovski et al 2016]
c.284T>Cp.Leu95ProRecurrent pathogenic variant [Petrovski et al 2016, Hemati et al 2018, Endo et al 2020]
c.287G>Tp.Arg96LeuRecurrent pathogenic variant, seen in 3 families w/AD inheritance [Lohmann et al 2017]
c.301A>Gp.Met101ValRecurrent pathogenic variant [Petrovski et al 2016]
c.352G>Tp.Asp118TyrIdentified de novo in an affected individual [Jones et al 2019]
c.353A>Gp.Asp118GlyRecurrent pathogenic variant [Firth et al 2009, Steinrücke et al 2016, Hemati et al 2018]
c.727A>Gp.Thr243AlaInherited from a mother (See Genetic Counseling.)

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: GNB1 Encephalopathy

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