ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)

gnomAD frequency: 0.00034  dbSNP: rs142215198
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.
GeneDx RCV002293430 SCV002586780 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV002293430 SCV004130475 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing AP4E1: BP4
Breakthrough Genomics, Breakthrough Genomics RCV002293430 SCV005193811 uncertain significance not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV002293430 SCV005409957 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing BP4
GenomeConnect - Brain Gene Registry 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/.

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