ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1291A>G (p.Ile431Val)

gnomAD frequency: 0.00001  dbSNP: rs754174029
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010794 SCV001171039 likely benign Hereditary cancer-predisposing syndrome 2023-12-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001305006 SCV001494315 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing 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: 818819). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. This variant is present in population databases (rs754174029, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 431 of the CTNNA1 protein (p.Ile431Val). 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.
Baylor Genetics RCV003473564 SCV004211276 uncertain significance Patterned macular dystrophy 2 2023-09-11 criteria provided, single submitter clinical testing

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