ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6292G>T (p.Val2098Phe)

gnomAD frequency: 0.00009  dbSNP: rs377726262
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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 RCV001348902 SCV001543228 uncertain significance Vici syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2098 of the EPG5 protein (p.Val2098Phe). This variant is present in population databases (rs377726262, gnomAD 0.02%). 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: 1044630). 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.
Ambry Genetics RCV004036567 SCV004865696 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.6292G>T (p.V2098F) alteration is located in exon 37 (coding exon 37) of the EPG5 gene. This alteration results from a G to T substitution at nucleotide position 6292, causing the valine (V) at amino acid position 2098 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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