ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.779A>G (p.Gln260Arg)

gnomAD frequency: 0.00022  dbSNP: rs190073606
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552444 SCV000654849 benign Arrhythmogenic right ventricular dysplasia 13 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001770477 SCV002004412 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000552444 SCV002806490 likely benign Arrhythmogenic right ventricular dysplasia 13 2021-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159927 SCV003911600 uncertain significance Inborn genetic diseases 2023-01-22 criteria provided, single submitter clinical testing The p.Q260R variant (also known as c.779A>G), located in coding exon 5 of the CTNNA3 gene, results from an A to G substitution at nucleotide position 779. The glutamine at codon 260 is replaced by arginine, an amino acid with highly 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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