ClinVar Miner

Submissions for variant NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)

dbSNP: rs199984052
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000991214 SCV001142593 uncertain significance CDH2-related disorder 2019-03-22 criteria provided, single submitter clinical testing
GeneDx RCV002462248 SCV002757009 pathogenic not provided 2022-11-11 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on self- and trans-cell aggregation (Accogli et al., 2019); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in at least one heterozygous clinically unaffected adult relative of an individual referred for genetic testing at GeneDx; This variant is associated with the following publications: (PMID: 31585109)
Core Molecular Diagnostic Lab, McGill University Health Centre RCV001007458 SCV001142866 pathogenic Corpus callosum, agenesis of; Axon pathfinding, cardiac, ocular and genital defects 2019-09-04 no assertion criteria provided research
OMIM RCV001195094 SCV001365397 pathogenic Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 2020-06-26 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001261829 SCV001439158 likely pathogenic Syndromic neurodevelopmental disorder no assertion criteria provided research

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