ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.181G>A (p.Ala61Thr)

gnomAD frequency: 0.00001  dbSNP: rs1473943942
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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 RCV004059373 SCV002710420 uncertain significance not specified 2021-09-01 criteria provided, single submitter clinical testing The p.A61T variant (also known as c.181G>A), located in coding exon 2 of the IDH1 gene, results from a G to A substitution at nucleotide position 181. The alanine at codon 61 is replaced by threonine, 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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