ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.1166C>A (p.Ser389Tyr)

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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 RCV004931651 SCV005600217 uncertain significance not specified 2024-08-12 criteria provided, single submitter clinical testing The p.S389Y variant (also known as c.1166C>A), located in coding exon 8 of the IDH1 gene, results from a C to A substitution at nucleotide position 1166. The serine at codon 389 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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