ClinVar Miner

Submissions for variant NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu)

gnomAD frequency: 0.00004  dbSNP: rs567875341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003227896 SCV003924976 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identified in three affected individuals from a family with cleft lip/palate, hearing loss, hypodontia, and enamel hypoplasia; all of these individuals also harbored a variant in the FGF8 gene which could also explain the phenotype (Cox et al., 2018); This variant is associated with the following publications: (PMID: 29805042)
University of Washington Center for Mendelian Genomics, University of Washington RCV001034564 SCV001197929 likely pathogenic Cleft lip with or without cleft palate no assertion criteria provided research

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