ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.312C>G (p.Phe104Leu) (rs76672402)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000311944 SCV000357707 benign GLUT1 deficiency syndrome 1 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 Clinical Services Laboratory,Illumina RCV000350448 SCV000357708 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.
GeneDx RCV000480070 SCV000565576 uncertain significance not specified 2016-08-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SLC2A1 gene. The F104L variant has not beenpublished as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observedwith any significant frequency in approximately 6,500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project. This substitution occurs at a position that is conserved in mammals. However,the F104L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structureas these residues share similar properties, and in silico analysis is inconsistent in its predictions as to whether or notthe variant is damaging to the protein structure/function. Therefore, based on the currently available information, it isunclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000480070 SCV000703136 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV000864633 SCV001005460 benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000662334 SCV000784692 not provided GLUT1 deficiency syndrome 2 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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