Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668220 | SCV000792788 | likely pathogenic | Nemaline myopathy 2 | 2017-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668220 | SCV001227086 | pathogenic | Nemaline myopathy 2 | 2020-01-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg8280Serfs*2) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776059611, ExAC 0.01%). This variant has been observed in individual(s) with congenital nemaline myopathy (PMID: 24725366). This variant is also known as c.24735_ 24736del in the literature. ClinVar contains an entry for this variant (Variation ID: 552874). Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. |