Submissions for variant NM_020751.3(COG6):c.1180A>G (p.Asn394Asp)

gnomAD frequency: 0.00327  dbSNP: rs34623774

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224038	SCV000281139	likely benign	not provided	2016-02-11	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000432164	SCV000528212	likely benign	not specified	2016-06-16	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	RCV001078557	SCV001005436	benign	COG6-congenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	2024-11-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001111259	SCV001268802	likely benign	COG6-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.
Fulgent Genetics, Fulgent Genetics	RCV001078557	SCV002808289	likely benign	COG6-congenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	2022-02-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224038	SCV004133074	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	COG6: BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000224038	SCV005215587	likely benign	not provided		criteria provided, single submitter	not provided