ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.1080A>C (p.Glu360Asp)

dbSNP: rs2469014355
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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 RCV004523768 SCV005023958 uncertain significance not specified 2023-12-29 criteria provided, single submitter clinical testing The p.E360D variant (also known as c.1080A>C), located in coding exon 7 of the IDH1 gene, results from an A to C substitution at nucleotide position 1080. The glutamic acid at codon 360 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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