ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.284A>C (p.Glu95Ala)

dbSNP: rs1755342562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002042138 SCV002109402 uncertain significance not provided 2023-01-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 95 of the CTNNA1 protein (p.Glu95Ala). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CTNNA1 protein function. ClinVar contains an entry for this variant (Variation ID: 1350800). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002440913 SCV002748156 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-26 criteria provided, single submitter clinical testing The p.E95A variant (also known as c.284A>C), located in coding exon 2 of the CTNNA1 gene, results from an A to C substitution at nucleotide position 284. The glutamic acid at codon 95 is replaced by alanine, an amino acid with dissimilar 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.
Baylor Genetics RCV003475113 SCV004211304 uncertain significance Patterned macular dystrophy 2 2023-05-28 criteria provided, single submitter clinical testing

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