ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.1091T>C (p.Ile364Thr)

dbSNP: rs2469014289
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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 RCV004599389 SCV002733512 uncertain significance not specified 2024-03-15 criteria provided, single submitter clinical testing The p.I364T variant (also known as c.1091T>C), located in coding exon 7 of the IDH1 gene, results from a T to C substitution at nucleotide position 1091. The isoleucine at codon 364 is replaced by threonine, 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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