ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1225C>T (p.Arg409Cys)

dbSNP: rs1064795031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481229 SCV000570428 likely pathogenic not provided 2019-08-27 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect - Brain Gene Registry RCV001788233 SCV002030769 not provided X-linked intellectual disability-cerebellar hypoplasia syndrome no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 08-29-2019 by Lab or GTR ID 26957. 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 John Constantino MD PhD 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.

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