ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.83A>G (p.Glu28Gly)

dbSNP: rs2469038482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004056112 SCV002680238 uncertain significance not specified 2022-06-27 criteria provided, single submitter clinical testing The p.E28G variant (also known as c.83A>G), located in coding exon 1 of the IDH1 gene, results from an A to G substitution at nucleotide position 83. The glutamic acid at codon 28 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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