ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1936A>G (p.Met646Val)

gnomAD frequency: 0.00001  dbSNP: rs745736928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960783 SCV002246886 uncertain significance Vici syndrome 2021-07-28 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 646 of the EPG5 protein (p.Met646Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs745736928, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
3billion RCV001960783 SCV005328866 likely benign Vici syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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