ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6340C>T (p.Arg2114Cys)

gnomAD frequency: 0.00004  dbSNP: rs775329245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332379 SCV001524693 uncertain significance Vici syndrome 2019-03-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332379 SCV003516670 uncertain significance Vici syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2114 of the EPG5 protein (p.Arg2114Cys). This variant is present in population databases (rs775329245, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030743). 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.

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