ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.803G>A (p.Arg268Gln)

gnomAD frequency: 0.01476  dbSNP: rs61995925
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082159 SCV000114105 benign not specified 2012-12-21 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000082159 SCV000257737 likely benign not specified 2015-04-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000538158 SCV000374568 likely benign ALG8 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.
Invitae RCV000538158 SCV000649503 benign ALG8 congenital disorder of glycosylation 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001711255 SCV001939792 benign not provided 2020-01-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28820871, 30061496)
CeGaT Center for Human Genetics Tuebingen RCV001711255 SCV004131159 benign not provided 2023-09-01 criteria provided, single submitter clinical testing ALG8: BS1, BS2
Clinical Genetics, Academic Medical Center RCV000082159 SCV001923740 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082159 SCV001963309 benign not specified no assertion criteria provided clinical testing

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