Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000232082 | SCV000289854 | uncertain significance | Spastic paraplegia | 2022-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 618 of the AP4E1 protein (p.Val618Ile). This variant is present in population databases (rs142215198, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with intellectual disability (PMID: 25167861, 26544806). ClinVar contains an entry for this variant (Variation ID: 240837). 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: "Tolerated"; PolyPhen-2: "Possibly 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. |
Gene |
RCV002293430 | SCV002586780 | likely benign | not provided | 2019-02-13 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ce |
RCV002293430 | SCV004130475 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | AP4E1: BP4 |
Breakthrough Genomics, |
RCV002293430 | SCV005193811 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Mayo Clinic Laboratories, |
RCV002293430 | SCV005409957 | uncertain significance | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | BP4 |
Genome |
RCV003987469 | SCV004804591 | not provided | Hereditary spastic paraplegia 51 | no assertion provided | phenotyping only | Variant classified as Uncertain significance and reported on 01-25-2022 by Invitae . Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/. |