ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1024G>A (p.Ala342Thr)

gnomAD frequency: 0.00001  dbSNP: rs763241827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828444 SCV000970133 likely benign not provided 2018-06-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001858425 SCV002216813 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2023-09-10 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects SLC2A1 function (PMID: 30588498). 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. ClinVar contains an entry for this variant (Variation ID: 669381). This missense change has been observed in individual(s) with clinical features of autosomal dominant SLC2A1-related conditions (PMID: 30588498). This variant is present in population databases (rs763241827, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 342 of the SLC2A1 protein (p.Ala342Thr).

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