Submissions for variant NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=)

gnomAD frequency: 0.00781  dbSNP: rs34616316

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000263306	SCV000414590	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 Inc	RCV000713002	SCV000843565	benign	not provided	2017-09-25	criteria provided, single submitter	clinical testing
Invitae	RCV000713002	SCV001032954	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000713002	SCV002525378	likely benign	not provided	2021-12-06	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.