ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.838T>C (p.Ser280Pro)

dbSNP: rs2469019358
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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 RCV004247855 SCV003867542 uncertain significance not specified 2023-02-24 criteria provided, single submitter clinical testing The p.S280P variant (also known as c.838T>C), located in coding exon 5 of the IDH1 gene, results from a T to C substitution at nucleotide position 838. The serine at codon 280 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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