Submissions for variant NM_018714.3(COG1):c.1049C>T (p.Thr350Met)

gnomAD frequency: 0.00650  dbSNP: rs117344829

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081959	SCV000113894	benign	not specified	2013-09-26	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000081959	SCV000258137	benign	not specified	2015-04-12	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224011	SCV000281650	benign	not provided	2015-08-26	criteria provided, single submitter	clinical testing
Invitae	RCV001085241	SCV001005687	likely benign	COG1 congenital disorder of glycosylation	2024-01-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085241	SCV001281348	likely benign	COG1 congenital disorder of glycosylation	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000224011	SCV001757637	benign	not provided	2020-09-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25533962)
CeGaT Center for Human Genetics Tuebingen	RCV000224011	SCV004144119	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	COG1: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003935064	SCV004753487	benign	COG1-related condition	2019-05-28	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000224011	SCV001739522	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224011	SCV001800435	likely benign	not provided		no assertion criteria provided	clinical testing