ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.803C>A (p.Ala268Asp)

dbSNP: rs2469019443
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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 RCV004055398 SCV002675995 uncertain significance not specified 2022-01-18 criteria provided, single submitter clinical testing The p.A268D variant (also known as c.803C>A), located in coding exon 5 of the IDH1 gene, results from a C to A substitution at nucleotide position 803. The alanine at codon 268 is replaced by aspartic acid, an amino acid with dissimilar 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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