Submissions for variant NM_032382.5(COG8):c.1741C>A (p.Pro581Thr)

gnomAD frequency: 0.00033  dbSNP: rs548002506

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000733633	SCV000861721	benign	not specified	2018-06-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000842956	SCV000984988	benign	not provided	2018-04-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089037	SCV001015382	benign	COG8-congenital disorder of glycosylation	2024-12-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001089037	SCV001280281	likely benign	COG8-congenital disorder of glycosylation	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000842956	SCV002545807	benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	COG8: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV001089037	SCV002802483	likely benign	COG8-congenital disorder of glycosylation	2022-03-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000842956	SCV005219072	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004748952	SCV005348050	benign	COG8-related disorder	2024-04-03	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).