ClinVar Miner

Submissions for variant NM_001085458.2(CTNND1):c.1381C>T (p.Arg461Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003236204 SCV003933612 pathogenic not provided 2022-12-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28135719, 31785789, 32196547, 35205020)
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004786908 SCV005400453 pathogenic Blepharocheilodontic syndrome 2 2024-10-11 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.5, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with blepharocheilodontic syndrome 2 (MIM#617681). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (v2, v3 and v4). (SP) 0701 - Other NMD-predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been identified in multiple individuals, including two de novo individuals, with CTNND1-related features, including heart defects and skeletal abnormalities (ClinVar, PMIDs: 32196547, 37589029). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed) (by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004786908 SCV005417375 pathogenic Blepharocheilodontic syndrome 2 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS4_Supporting+PM6_Supporting

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