ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4916T>A (p.Ile1639Asn)

gnomAD frequency: 0.00001  dbSNP: rs375030392
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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 RCV001323459 SCV001514375 uncertain significance Vici syndrome 2022-03-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 1639 of the EPG5 protein (p.Ile1639Asn). This variant is present in population databases (rs375030392, gnomAD 0.006%). 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: 1023423). 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: "Deleterious"; PolyPhen-2: "Benign"; 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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