ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1229A>G (p.Asn410Ser)

dbSNP: rs2150032599
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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 RCV003774877 SCV004652534 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 410 of the CTNNA1 protein (p.Asn410Ser). This variant is not present in population databases (gnomAD no frequency). 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: 1700590). 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 with a negative 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 RCV004948669 SCV005568476 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-06 criteria provided, single submitter clinical testing The p.N410S variant (also known as c.1229A>G), located in coding exon 8 of the CTNNA1 gene, results from an A to G substitution at nucleotide position 1229. The asparagine at codon 410 is replaced by serine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Genomic Center, National Cancer Institute RCV002274828 SCV002559833 uncertain significance Colorectal cancer no assertion criteria provided case-control

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