ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys)

gnomAD frequency: 0.00058  dbSNP: rs77165728
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226671 SCV000289892 likely benign Arrhythmogenic right ventricular dysplasia 13 2024-01-09 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514836 SCV000609848 likely benign not provided 2017-03-06 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000226671 SCV000679922 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411056 SCV002723641 uncertain significance Inborn genetic diseases 2022-10-11 criteria provided, single submitter clinical testing The p.E634K variant (also known as c.1900G>A), located in coding exon 13 of the CTNNA3 gene, results from a G to A substitution at nucleotide position 1900. The glutamic acid at codon 634 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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