Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598963 | SCV000710277 | likely pathogenic | not provided | 2017-12-29 | criteria provided, single submitter | clinical testing | The M97X variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The M97X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). |
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, |
RCV001644702 | SCV001519096 | pathogenic | Autosomal recessive spinocerebellar ataxia 10 | 2021-01-04 | criteria provided, single submitter | research | |
Invitae | RCV000598963 | SCV004540334 | pathogenic | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met97*) in the ANO10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANO10 are known to be pathogenic (PMID: 25089919). This variant is present in population databases (rs772345347, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with ANO10-related conditions (PMID: 29482223). ClinVar contains an entry for this variant (Variation ID: 503974). For these reasons, this variant has been classified as Pathogenic. |