ClinVar Miner

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

gnomAD frequency: 0.00327  dbSNP: rs34623774
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Total submissions: 6
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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.
Invitae RCV001078557 SCV001005436 benign COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2023-11-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111259 SCV001268802 likely benign COG6-ongenital 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-ongenital 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

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