ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1062+4A>G

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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 RCV002621793 SCV002960459 uncertain significance not provided 2024-01-20 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the CTNNA1 gene. It does not directly change the encoded amino acid sequence of the CTNNA1 protein. It affects a nucleotide within the consensus splice site. 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: 1927627). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV003475404 SCV004211274 uncertain significance Patterned macular dystrophy 2 2023-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004948727 SCV005568365 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-23 criteria provided, single submitter clinical testing The c.1062+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 6 in the CTNNA1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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