ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys)

gnomAD frequency: 0.00003  dbSNP: rs147249343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723629 SCV000113368 uncertain significance not provided 2013-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000723629 SCV000242991 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23280796, 16217704, 23340081)
Labcorp Genetics (formerly Invitae), Labcorp RCV000690814 SCV000818542 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 218 of the SLC2A1 protein (p.Arg218Cys). This variant is present in population databases (rs147249343, gnomAD 0.01%). 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: 95415). 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.

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