ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2702G>T (p.Trp901Leu)

gnomAD frequency: 0.00004  dbSNP: rs201315023
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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 RCV001061094 SCV001225826 uncertain significance Vici syndrome 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 901 of the EPG5 protein (p.Trp901Leu). This variant is present in population databases (rs201315023, gnomAD 0.006%). 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: 855762). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EPG5 protein function with a positive predictive value of 80%. 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 RCV004031943 SCV004865666 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.2702G>T (p.W901L) alteration is located in exon 14 (coding exon 14) of the EPG5 gene. This alteration results from a G to T substitution at nucleotide position 2702, causing the tryptophan (W) at amino acid position 901 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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