Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666891 | SCV000791260 | pathogenic | Nemaline myopathy 2 | 2017-05-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666891 | SCV001224341 | pathogenic | Nemaline myopathy 2 | 2019-12-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr6949Asnfs*16) 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 observed in families affected with nemaline myopathy (PMID: 25205138). ClinVar contains an entry for this variant (Variation ID: 551753). Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. |