Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000816771 | SCV000957296 | pathogenic | not provided | 2025-01-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg731*) in the CTNNA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTNNA1 are known to be pathogenic (PMID: 32051609, 34425242). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with a family history of early-onset breast cancer (PMID: 32051609). ClinVar contains an entry for this variant (Variation ID: 659725). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002427020 | SCV002729435 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-05 | criteria provided, single submitter | clinical testing | The p.R731* variant (also known as c.2191C>T), located in coding exon 14 of the CTNNA1 gene, results from a C to T substitution at nucleotide position 2191. This changes the amino acid from an arginine to a stop codon within coding exon 14. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Baylor Genetics | RCV004569721 | SCV005058590 | likely pathogenic | Patterned macular dystrophy 2 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000816771 | SCV005442980 | likely pathogenic | not provided | 2024-07-02 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed in individuals referred for hereditary cancer multi-gene panel testing (PMID: 32051609); This variant is associated with the following publications: (PMID: 34425242, 32051609) |
| Undiagnosed Diseases Network, |
RCV002509555 | SCV002818546 | likely pathogenic | CTNNA1-associated FEVR | 2022-08-03 | no assertion criteria provided | clinical testing |