ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.599C>G (p.Ala200Gly)

dbSNP: rs2469022114
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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 RCV004052539 SCV002655742 uncertain significance not specified 2022-06-07 criteria provided, single submitter clinical testing The p.A200G variant (also known as c.599C>G), located in coding exon 4 of the IDH1 gene, results from a C to G substitution at nucleotide position 599. The alanine at codon 200 is replaced by glycine, an amino acid with 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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