ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.221C>T (p.Ala74Val)

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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 RCV004931640 SCV005600204 uncertain significance not specified 2024-09-01 criteria provided, single submitter clinical testing The p.A74V variant (also known as c.221C>T), located in coding exon 2 of the IDH1 gene, results from a C to T substitution at nucleotide position 221. The alanine at codon 74 is replaced by valine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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