ClinVar Miner

Submissions for variant NM_001961.4(EEF2):c.442del (p.Ala148fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002790029 SCV003761398 uncertain significance Spinocerebellar ataxia type 26 2023-01-25 criteria provided, single submitter curation The heterozygous p.Ala148ProfsTer8 variant in EEF2 was identified in one individual with spinocerebellar ataxia. The p.Ala148ProfsTer8 variant in EEF2 has not been previously reported in individuals with autosomal dominant spinocerebellar ataxia type 26. This variant was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 148 and leads to a premature termination codon 8 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. It is of note that loss of function of EEF2 gene in an autosomal dominant disease has not yet been established based on the criteria laid out in Tayoun et al., 2018 (PMID: 30192042). In summary, the clinical significance of the p.Ala148ProfsTer8 variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting (Richards 2015).

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