Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000530974 | SCV000640767 | pathogenic | Nemaline myopathy 2 | 2019-02-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg974*) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the homozygous state in individuals and families affected with fetal akinesia with lethal multiple pterygia syndrome (PMID: 26578207, 25205138). ClinVar contains an entry for this variant (Variation ID: 465594). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000530974 | SCV000713852 | pathogenic | Nemaline myopathy 2 | 2018-04-02 | no assertion criteria provided | literature only | |
| Counsyl | RCV000530974 | SCV000794613 | likely pathogenic | Nemaline myopathy 2 | 2017-10-02 | no assertion criteria provided | clinical testing |