Table 6.

Notable PRKCG Pathogenic Variants

Reference SequencesDNA Nucleotide
Change
(Alias 1)		Predicted
Protein Change
(Alias 1)		Comment [Reference]
NM_002739​.5
NP_002730​.1 		c.76A>Gp.Arg26GlyRecurrent variant
c.197G>Ap.Cys66TyrRecurrent variant
c.226C>Tp.Arg76TerNonsense variant
c.767T>Cp.Met256ThrHomozygous variant; identified in an ADCA cohort study; no further clinical description
c.353G>Ap.Gly118AspDutch founder variant [van de Warrenburg et al 2003]
c.301C>Tp.His101TyrRecurrent variant. The His101 residue is a mutational hot spot for SCA14
c.302A>Gp.His101Arg
c.303C>Gp.His101Gln
c.383G>Ap.Gly128AspRecurrent variant
c.391T>Cp.Cys131ArgRecurrent variant
c.392G>Ap.Cys131TyrRecurrent variant
c.413T>Ap.Val138GluRecurrent variant
c.530_919del 2p.Val177_Tyr307delReported in 3 homozygous sibs w/ID & ataxia [Najmabadi et al 2011]
c.1927T>Cp.Phe643LeuPossible French founder variant, reported in 2 French kindreds [Stevanin et al 2004, Klebe et al 2005]
c.2091_*98del 3
(2089-2192del)		p.Met697_Ter698delins(76)
(p.Met697_Ter698delinsXaa)
(Met697Ileex)
(M697I-ex13)		Homozygous variant; deletion of terminal Met codon, stop codon, & part of 3’UTR [Asai et al 2009, Najmabadi et al 2011]

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.

ADCA = autosomal dominant cerebellar ataxia; ID = intellectual disability

1.

Variant designation that does not conform to current naming conventions.

2.

Intragenic multiexon deletion of 1,717 nucleotides of genomic DNA (Chr19:59086740-59088457) (NCBI36)

3.

NG_009114​.1:g.29680_29781del

From: Spinocerebellar Ataxia Type 14

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