ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.401C>T (p.Ala134Val)

dbSNP: rs1688060815
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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 RCV004051142 SCV002620840 uncertain significance not specified 2021-06-20 criteria provided, single submitter clinical testing The p.A134V variant (also known as c.401C>T), located in coding exon 2 of the IDH1 gene, results from a C to T substitution at nucleotide position 401. The alanine at codon 134 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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