Submissions for variant NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)

dbSNP: rs121918514

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001698941	SCV005201585	pathogenic	not provided	2023-08-14	criteria provided, single submitter	clinical testing	Published functional studies suggest a damaging effect through increasing kinase activity (Verbeek et al., 2005); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21666345, 17343273, 28554312, 15642736, 15841389, 28738819, 33739604, 14694043, 15618281)
OMIM	RCV000014152	SCV000034400	pathogenic	Spinocerebellar ataxia type 14	2005-06-01	no assertion criteria provided	literature only
GeneReviews	RCV000014152	SCV000058620	not provided	Spinocerebellar ataxia type 14		no assertion provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001698941	SCV001926944	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001698941	SCV001966401	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001698941	SCV001979708	likely pathogenic	not provided		no assertion criteria provided	clinical testing