ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5602G>C (p.Gly1868Arg)

dbSNP: rs762207905
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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 RCV001978958 SCV002220062 uncertain significance Vici syndrome 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1868 of the EPG5 protein (p.Gly1868Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1440822). 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: "Possibly 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.
Ambry Genetics RCV002562229 SCV003530747 uncertain significance Inborn genetic diseases 2024-05-28 criteria provided, single submitter clinical testing The c.5602G>C (p.G1868R) alteration is located in exon 32 (coding exon 32) of the EPG5 gene. This alteration results from a G to C substitution at nucleotide position 5602, causing the glycine (G) at amino acid position 1868 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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