Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000487929 | SCV000575089 | likely pathogenic | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001215018 | SCV001386737 | likely pathogenic | Myopathy, proximal, and ophthalmoplegia | 2019-07-12 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYH2 are known to be pathogenic (PMID: 20418530, 23388406, 24193343). This variant has not been reported in the literature in individuals with MYH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 425123). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change affects a donor splice site in intron 37 of the MYH2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Gene |
RCV000487929 | SCV001991337 | uncertain significance | not provided | 2019-06-06 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Canonical splice site variant predicted to result in an in-frame deletion of exon 37; Has not been previously published as pathogenic or benign to our knowledge |
Institute of Human Genetics, |
RCV001215018 | SCV002496428 | uncertain significance | Myopathy, proximal, and ophthalmoplegia | 2022-03-10 | criteria provided, single submitter | clinical testing |