Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000277796 | SCV000330628 | pathogenic | not provided | 2022-09-22 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Deletions involving coding exons in this gene are frequently reported as pathogenic, regardless of frame prediction (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34853893, 28600779, 30919572, 35046417) |
Invitae | RCV001214721 | SCV001386420 | likely pathogenic | Nemaline myopathy 2 | 2019-05-03 | 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 NEB are known to be pathogenic (PMID: 25205138). This variant has been observed to be homozygous in an individual affected with fetal akinesia (PMID: 28600779). ClinVar contains an entry for this variant (Variation ID: 280692). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 78 of the NEB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Center for Genomic Medicine, |
RCV001214721 | SCV004805035 | pathogenic | Nemaline myopathy 2 | 2024-03-17 | criteria provided, single submitter | research | |
Center for Genomic Medicine, |
RCV004527372 | SCV005039008 | pathogenic | Arthrogryposis multiplex congenita 6 | 2024-03-22 | criteria provided, single submitter | research | |
Natera, |
RCV001214721 | SCV001459398 | pathogenic | Nemaline myopathy 2 | 2020-09-16 | no assertion criteria provided | clinical testing |