Submissions for variant NM_000311.5(PRNP):c.372C>G (p.Gly124=)

gnomAD frequency: 0.00213  dbSNP: rs201423990

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000334919	SCV000434228	benign	Inherited prion disease	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.
Invitae	RCV000873874	SCV001015960	benign	Huntington disease-like 1	2024-01-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001580108	SCV001471657	benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001580108	SCV004149834	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PRNP: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580108	SCV001809706	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001580108	SCV001975141	likely benign	not provided		no assertion criteria provided	clinical testing