ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.727A>C (p.Lys243Gln)

dbSNP: rs1005721363
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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 RCV004055835 SCV002671521 uncertain significance not specified 2024-09-25 criteria provided, single submitter clinical testing The p.K243Q variant (also known as c.727A>C), located in coding exon 5 of the IDH1 gene, results from an A to C substitution at nucleotide position 727. The lysine at codon 243 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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