ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1435C>T (p.Leu479Phe)

gnomAD frequency: 0.00051  dbSNP: rs200364337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687062 SCV000814613 uncertain significance Vici syndrome 2022-07-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 479 of the EPG5 protein (p.Leu479Phe). This variant is present in population databases (rs200364337, gnomAD 0.1%). 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: 567082). 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: "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.
GeneDx RCV001731889 SCV001982105 uncertain significance not provided 2022-03-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV004619379 SCV005118863 uncertain significance Inborn genetic diseases 2024-04-22 criteria provided, single submitter clinical testing The c.1435C>T (p.L479F) alteration is located in exon 5 (coding exon 5) of the EPG5 gene. This alteration results from a C to T substitution at nucleotide position 1435, causing the leucine (L) at amino acid position 479 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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