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

gnomAD frequency: 0.00003  dbSNP: rs570471424

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	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	RCV002418678	SCV002724505	uncertain significance	Inborn genetic diseases	2021-10-21	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.
PreventionGenetics, part of Exact Sciences	RCV003918777	SCV004735219	uncertain significance	CTNNA3-related condition	2024-01-08	criteria provided, single submitter	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.
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