ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.328A>G (p.Arg110Gly)

gnomAD frequency: 0.00004  dbSNP: rs761327582
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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 RCV000822040 SCV000962820 uncertain significance Vici syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 110 of the EPG5 protein (p.Arg110Gly). This variant is present in population databases (rs761327582, gnomAD 0.06%). 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: 664038). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004619433 SCV005118861 uncertain significance Inborn genetic diseases 2024-04-04 criteria provided, single submitter clinical testing The c.328A>G (p.R110G) alteration is located in exon 2 (coding exon 2) of the EPG5 gene. This alteration results from a A to G substitution at nucleotide position 328, causing the arginine (R) at amino acid position 110 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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