ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.959A>C (p.Gln320Pro)

dbSNP: rs199915613
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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 RCV004056944 SCV002695671 uncertain significance not specified 2022-05-02 criteria provided, single submitter clinical testing The p.Q320P variant (also known as c.959A>C), located in coding exon 6 of the IDH1 gene, results from an A to C substitution at nucleotide position 959. The glutamine at codon 320 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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