ClinVar Miner

Submissions for variant NM_001085458.2(CTNND1):c.2091G>A (p.Thr697=)

dbSNP: rs2137384936
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823586 SCV002073140 uncertain significance Blepharocheilodontic syndrome 2 criteria provided, single submitter clinical testing The synonymous variant p.T697= in CTNND1 (NM_001085458.2) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.T697= variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.T697= variant is present at the splice site and predicted to disrupt splicing by 3 of 4 splice site algorithms. For these reasons, this variant has been classified as Uncertain Significance.

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