Submissions for variant NM_002739.5(PRKCG):c.207C>T (p.Cys69=)

gnomAD frequency: 0.03300  dbSNP: rs307955

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000625043	SCV000414579	benign	Spinocerebellar ataxia type 14	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625043	SCV000743604	benign	Spinocerebellar ataxia type 14	2014-10-10	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625043	SCV000744918	benign	Spinocerebellar ataxia type 14	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001660684	SCV001881550	benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001660684	SCV005312737	benign	not provided		criteria provided, single submitter	not provided