ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala)

gnomAD frequency: 0.00001  dbSNP: rs987202561
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214071 SCV001385734 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2024-04-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 131 of the SLC2A1 protein (p.Val131Ala). This variant is not present in population databases (gnomAD no frequency). 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: 943804). 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.
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002287482 SCV002578129 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2022-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163632 SCV003874346 uncertain significance Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing The c.392T>C (p.V131A) alteration is located in exon 4 (coding exon 4) of the SLC2A1 gene. This alteration results from a T to C substitution at nucleotide position 392, causing the valine (V) at amino acid position 131 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002287482 SCV004173474 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446651 SCV004173475 uncertain significance Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446649 SCV004173476 uncertain significance Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446650 SCV004173477 uncertain significance Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446652 SCV004173479 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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