ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.173C>T (p.Ala58Val)

gnomAD frequency: 0.00001  dbSNP: rs780078260
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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 RCV000814724 SCV000955146 uncertain significance not provided 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 58 of the CTNNA1 protein (p.Ala58Val). This variant is present in population databases (rs780078260, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 657999). 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 expected to disrupt CTNNA1 protein function with a positive predictive value of 80%. 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.
Ambry Genetics RCV002397687 SCV002710239 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-21 criteria provided, single submitter clinical testing The p.A58V variant (also known as c.173C>T), located in coding exon 2 of the CTNNA1 gene, results from a C to T substitution at nucleotide position 173. The alanine at codon 58 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Baylor Genetics RCV004569704 SCV005058599 uncertain significance Patterned macular dystrophy 2 2023-12-14 criteria provided, single submitter clinical testing

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