ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.1171T>C (p.Tyr391His)

dbSNP: rs2469010523
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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 RCV004050011 SCV002629902 uncertain significance not specified 2021-08-10 criteria provided, single submitter clinical testing The p.Y391H variant (also known as c.1171T>C), located in coding exon 8 of the IDH1 gene, results from a T to C substitution at nucleotide position 1171. The tyrosine at codon 391 is replaced by histidine, 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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