ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.6698G>A (p.Gly2233Glu)

dbSNP: rs1774991184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003223714 SCV003919419 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect - Simons Searchlight RCV001265391 SCV001443516 uncertain significance Intellectual disability, autosomal dominant 43 2018-09-10 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-10 and interpreted as Variant of Uncertain significance. Variant was initially reported on 2018-06-29 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. Variant was identified in multiple siblings. Additional phenotypic information for other sibling(s) might be available from Simons Searchlight.
GenomeConnect - Brain Gene Registry RCV001880091 SCV002107394 not provided Neurodevelopmental disorder no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-28-2018 by Lab GeneDx. Variant was identified in multiple siblings. Additional phenotypic information for other sibling(s) might available. 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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