ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1782T>G (p.Phe594Leu)

gnomAD frequency: 0.00002  dbSNP: rs888785002
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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 RCV001878787 SCV002130161 uncertain significance Vici syndrome 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 594 of the EPG5 protein (p.Phe594Leu). This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002551111 SCV003547908 uncertain significance Inborn genetic diseases 2021-06-21 criteria provided, single submitter clinical testing The c.1782T>G (p.F594L) alteration is located in exon 8 (coding exon 8) of the EPG5 gene. This alteration results from a T to G substitution at nucleotide position 1782, causing the phenylalanine (F) at amino acid position 594 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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