ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.645T>G (p.Ile215Met)

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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 RCV004931653 SCV005600219 uncertain significance not specified 2024-08-21 criteria provided, single submitter clinical testing The p.I215M variant (also known as c.645T>G), located in coding exon 4 of the IDH1 gene, results from a T to G substitution at nucleotide position 645. The isoleucine at codon 215 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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