ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)

gnomAD frequency: 0.00031  dbSNP: rs148518827
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721222 SCV000243002 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30700737, 32025761, 23340081, 30588498)
Illumina Laboratory Services, Illumina RCV000306227 SCV000357687 benign Encephalopathy due to GLUT1 deficiency 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000363287 SCV000357688 benign Dystonia 9 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000463634 SCV000545835 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317646 SCV000851131 likely benign Inborn genetic diseases 2021-06-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV001721222 SCV002542030 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing

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