Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672922 | SCV000798078 | likely pathogenic | Nemaline myopathy 2 | 2018-02-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000672922 | SCV000961547 | pathogenic | Nemaline myopathy 2 | 2018-07-23 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 35 of the NEB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with nemaline myopathy (PMID: 25205138). 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). For these reasons, this variant has been classified as Pathogenic. |