ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3854C>T (p.Ser1285Phe)

gnomAD frequency: 0.00001  dbSNP: rs779751217
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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 RCV001940059 SCV002182072 uncertain significance Vici syndrome 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1285 of the EPG5 protein (p.Ser1285Phe). This variant is present in population databases (rs779751217, gnomAD 0.007%). 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: 1410329). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002555782 SCV003746203 uncertain significance Inborn genetic diseases 2022-07-12 criteria provided, single submitter clinical testing The c.3854C>T (p.S1285F) alteration is located in exon 22 (coding exon 22) of the EPG5 gene. This alteration results from a C to T substitution at nucleotide position 3854, causing the serine (S) at amino acid position 1285 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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