ClinVar Miner

Submissions for variant NM_001961.4(EEF2):c.1480A>T (p.Met494Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388765 SCV004100552 uncertain significance Spinocerebellar ataxia type 26 criteria provided, single submitter clinical testing The missense variant p.M494L in EEF2 (NM_001961.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.M494L variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. In silico predictions predict a tolerated effect and the residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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