ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.98C>T (p.Pro33Leu)

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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 RCV004926137 SCV005600230 uncertain significance not specified 2024-11-06 criteria provided, single submitter clinical testing The p.P33L variant (also known as c.98C>T), located in coding exon 1 of the IDH1 gene, results from a C to T substitution at nucleotide position 98. The proline at codon 33 is replaced by leucine, an amino acid with 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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