Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667496 | SCV000791954 | pathogenic | Nemaline myopathy 2 | 2017-06-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667496 | SCV001226880 | pathogenic | Nemaline myopathy 2 | 2019-12-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg8125Serfs*54) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs747564597, ExAC 0.006%). This variant has been observed in individual(s) with nemaline myopathy (PMID: 25205138, 26197980). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 552268). Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. |