ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.1147T>A (p.Leu383Ile)

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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 RCV004931654 SCV005600220 uncertain significance not specified 2024-08-21 criteria provided, single submitter clinical testing The p.L383I variant (also known as c.1147T>A), located in coding exon 7 of the IDH1 gene, results from a T to A substitution at nucleotide position 1147. The leucine at codon 383 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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