Submissions for variant NM_002739.5(PRKCG):c.567T>C (p.Asn189=)

gnomAD frequency: 0.35855  dbSNP: rs3745406

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000616613	SCV000414584	benign	Spinocerebellar ataxia type 14	2018-01-12	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.
Athena Diagnostics	RCV000710208	SCV000614786	benign	not provided	2017-07-12	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000616613	SCV000744920	benign	Spinocerebellar ataxia type 14	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000710208	SCV001898357	benign	not provided	2019-09-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000616613	SCV002031859	benign	Spinocerebellar ataxia type 14	2021-10-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710208	SCV005312742	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118062	SCV000152391	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000616613	SCV000733918	benign	Spinocerebellar ataxia type 14		no assertion criteria provided	clinical testing