ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.-2C>T

gnomAD frequency: 0.00001  dbSNP: rs587784388
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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 RCV000147516 SCV000194953 likely benign not specified 2013-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312975 SCV000849192 uncertain significance Inborn genetic diseases 2017-03-10 criteria provided, single submitter clinical testing The c.-2C>T variant is located in the 5' untranslated region (5’ UTR) of the SLC2A1 gene. This variant results from a C to T substitution 2 bases upstream from the first translated codon. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
GeneDx RCV001731395 SCV001981903 uncertain significance not provided 2024-09-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Alters the Kozak sequence, which plays a major role in the initiation of translation
Revvity Omics, Revvity RCV001731395 SCV003825657 uncertain significance not provided 2022-10-12 criteria provided, single submitter clinical testing

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