ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2098G>A (p.Asp700Asn)

gnomAD frequency: 0.00003  dbSNP: rs570471424
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204805 SCV001376028 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2019-09-05 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CTNNA3-related conditions. This variant is present in population databases (rs570471424, ExAC 0.009%). This sequence change replaces aspartic acid with asparagine at codon 700 of the CTNNA3 protein (p.Asp700Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine.
Ambry Genetics RCV004033629 SCV002724505 uncertain significance not specified 2024-02-22 criteria provided, single submitter clinical testing The p.D700N variant (also known as c.2098G>A), located in coding exon 14 of the CTNNA3 gene, results from a G to A substitution at nucleotide position 2098. The aspartic acid at codon 700 is replaced by asparagine, 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001729812 SCV001978722 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729812 SCV001980262 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003918777 SCV004735219 uncertain significance CTNNA3-related disorder 2024-01-08 no assertion criteria provided clinical testing The CTNNA3 c.2098G>A variant is predicted to result in the amino acid substitution p.Asp700Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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