ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe)

dbSNP: rs1643484697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270785 SCV001451546 uncertain significance Childhood onset GLUT1 deficiency syndrome 2 2019-01-09 criteria provided, single submitter clinical testing The SLC2A1 c.218C>T (p.Ser73Phe) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database despite its location in a region of good sequencing coverage. It is therefore presumed to be rare. Functional studies of this variant, which is located in the pore-forming second transmembrane domain, have not been conducted. Based on the limited evidence available, the p.Ser73Phe variant is classified as a variant of uncertain significance for glucose transporter type 1 deficiency syndrome.

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