ClinVar Miner

Submissions for variant NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn)

dbSNP: rs1599017933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV001254682 SCV001430739 likely pathogenic Corpus callosum, agenesis of 2020-05-29 criteria provided, single submitter research The heterozygous p.Asp353Asn variant in CDH2 was identified by our study in 1 individual with agenesis of corpus callosum (PMID: 31585109). Trio exome analysis showed this variant to be de novo. The variant was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PS2, PM2 (Richards 2015).
Core Molecular Diagnostic Lab, McGill University Health Centre RCV001007452 SCV001142860 pathogenic Corpus callosum, agenesis of; Axon pathfinding, cardiac, ocular and genital defects 2019-09-04 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001261826 SCV001439155 likely pathogenic Syndromic neurodevelopmental disorder no assertion criteria provided research

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