ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.1120A>G (p.Lys374Glu)

gnomAD frequency: 0.00001  dbSNP: rs201267625
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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 RCV004063145 SCV002750990 uncertain significance not specified 2023-06-24 criteria provided, single submitter clinical testing The p.K374E variant (also known as c.1120A>G), located in coding exon 7 of the IDH1 gene, results from an A to G substitution at nucleotide position 1120. The lysine at codon 374 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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