ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile)

gnomAD frequency: 0.23124  dbSNP: rs5400
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118387 SCV000303720 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370969 SCV000442123 benign Fanconi-Bickel syndrome 2018-03-06 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 RCV000118387 SCV000517652 benign not specified 2015-12-14 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.
Mendelics RCV000370969 SCV001136629 benign Fanconi-Bickel syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000370969 SCV001718734 benign Fanconi-Bickel syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118387 SCV000152787 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000675656 SCV000801357 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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