ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2898A>G (p.Gln966=)

gnomAD frequency: 0.00001  dbSNP: rs777041802
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907137 SCV002126927 uncertain significance Vici syndrome 2022-01-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is present in population databases (rs777041802, gnomAD 0.02%). This sequence change affects codon 966 of the EPG5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EPG5 protein.

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