ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.592G>A (p.Asp198Asn)

gnomAD frequency: 0.00001  dbSNP: rs570071609
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000625991 SCV000746596 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 2017-03-03 criteria provided, single submitter clinical testing
GeneDx RCV001756030 SCV001987772 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect - Brain Gene Registry RCV002264964 SCV002547299 not provided Megalencephalic leukoencephalopathy with subcortical cysts no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-26-2016 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. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.
Undiagnosed Diseases Network, NIH RCV000625991 SCV004812046 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 2018-03-16 no assertion criteria provided clinical testing

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