ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.553C>A (p.Gln185Lys)

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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 RCV004635494 SCV005121495 uncertain significance not specified 2024-04-11 criteria provided, single submitter clinical testing The p.Q185K variant (also known as c.553C>A), located in coding exon 4 of the IDH1 gene, results from a C to A substitution at nucleotide position 553. The glutamine at codon 185 is replaced by lysine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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