Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549960 | SCV000640731 | pathogenic | Nemaline myopathy 2 | 2019-11-29 | criteria provided, single submitter | clinical testing | This sequence change deletes 4 nucleotides from exon 169 of the NEB mRNA (c.24072_24075del), causing a frameshift at codon 8025. This creates a premature translational stop signal (p.Pro8025Serfs*154) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000549960 | SCV000799414 | uncertain significance | Nemaline myopathy 2 | 2018-04-18 | criteria provided, single submitter | clinical testing |