ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.854A>G (p.Tyr285Cys)

dbSNP: rs2469016416
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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 RCV004056238 SCV002676197 uncertain significance not specified 2021-08-03 criteria provided, single submitter clinical testing The p.Y285C variant (also known as c.854A>G), located in coding exon 6 of the IDH1 gene, results from an A to G substitution at nucleotide position 854. The tyrosine at codon 285 is replaced by cysteine, an amino acid with highly dissimilar 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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