ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4034A>G (p.His1345Arg)

gnomAD frequency: 0.00006  dbSNP: rs200456950
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799289 SCV000938944 uncertain significance Vici syndrome 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1345 of the EPG5 protein (p.His1345Arg). This variant is present in population databases (rs200456950, gnomAD 0.02%). 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: 645244). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV000799289 SCV002786666 uncertain significance Vici syndrome 2022-03-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000799289 SCV003833537 uncertain significance Vici syndrome 2019-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166176 SCV003863570 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.4034A>G (p.H1345R) alteration is located in exon 23 (coding exon 23) of the EPG5 gene. This alteration results from a A to G substitution at nucleotide position 4034, causing the histidine (H) at amino acid position 1345 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693281 SCV005193320 uncertain significance not provided criteria provided, single submitter not provided

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