ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.7454T>A (p.Val2485Asp)

dbSNP: rs777272603
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052396 SCV001216605 uncertain significance Vici syndrome 2022-08-05 criteria provided, single submitter clinical testing 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. 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"). ClinVar contains an entry for this variant (Variation ID: 848605). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is present in population databases (rs777272603, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 2485 of the EPG5 protein (p.Val2485Asp).

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