Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807922 | SCV000948002 | pathogenic | Nemaline myopathy 2 | 2022-10-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 55 of the NEB gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with NEB-related conditions (PMID: 15221447, 19232495). It is commonly reported in individuals of Ashkenazi Jewish ancestry (PMID: 15221447, 19232495). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that a similar copy number variant affects NEB function (PMID: 23715096). For these reasons, this variant has been classified as Pathogenic. |