ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln)

gnomAD frequency: 0.00001  dbSNP: rs587784395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147530 SCV000194975 likely benign not specified 2013-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001067060 SCV001232092 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 249 of the SLC2A1 protein (p.Arg249Gln). This variant is present in population databases (rs587784395, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 159927). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt SLC2A1 function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001507438 SCV001712990 uncertain significance not provided 2020-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390305 SCV002668866 likely benign Inborn genetic diseases 2019-10-22 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.

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