ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6364T>C (p.Phe2122Leu)

dbSNP: rs1025405891
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946104 SCV002211255 uncertain significance Vici syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2122 of the EPG5 protein (p.Phe2122Leu). ClinVar contains an entry for this variant (Variation ID: 1433609). 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.

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