ClinVar Miner

Submissions for variant NM_001961.4(EEF2):c.1347-8T>G

gnomAD frequency: 0.00001  dbSNP: rs376174565
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711573 SCV000841953 benign not provided 2018-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000711573 SCV004536053 uncertain significance not provided 2023-02-28 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the EEF2 gene. It does not directly change the encoded amino acid sequence of the EEF2 protein. This variant is present in population databases (rs376174565, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with EEF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 585822). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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