Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |
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. |