ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.263T>G (p.Leu88Ter)

gnomAD frequency: 0.00005  dbSNP: rs183478189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760667 SCV000890559 pathogenic not provided 2023-05-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD)
Labcorp Genetics (formerly Invitae), Labcorp RCV001383670 SCV001582890 pathogenic Vici syndrome 2024-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu88*) in the EPG5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EPG5 are known to be pathogenic (PMID: 23222957, 23674064). This variant is present in population databases (rs183478189, gnomAD no frequency). 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: 620301). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002533844 SCV003620164 pathogenic Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.263T>G (p.L88*) alteration, located in exon 2 (coding exon 2) of the EPG5 gene, consists of a T to G substitution at nucleotide position 263. This changes the amino acid from a leucine (L) to a stop codon at amino acid position 88. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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