Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000992714 | SCV001145215 | uncertain significance | not provided | 2022-12-05 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. This variant is predicted to result in a premature stop codon in the last exon of the gene. Nonsense variants in this region of genes are thought to escape normal nonsense-mediated decay mechanisms. Therefore, this altered protein may be expressed, but it remains unclear if the alteration will affect its function. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). |
| Invitae | RCV002536213 | SCV003258574 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2022-01-26 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 694913). This variant has not been reported in the literature in individuals affected with PRX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1291*) in the PRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 171 amino acid(s) of the PRX protein. |
| Genesis Genome Database | RCV000857047 | SCV000999618 | uncertain significance | Charcot-Marie-Tooth disease | 2019-08-14 | no assertion criteria provided | research |