Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000015090 | SCV000945527 | pathogenic | Nemaline myopathy 2 | 2019-09-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met7582Ilefs*5) 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 not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 14046). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000015090 | SCV000035347 | pathogenic | Nemaline myopathy 2 | 1999-03-02 | no assertion criteria provided | literature only |