Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001379432 | SCV001577235 | pathogenic | Nemaline myopathy 2 | 2023-06-09 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 11 of the NEB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1068014). This variant is also known as g.23393 G>A. Disruption of this splice site has been observed in individual(s) with nemaline myopathy (PMID: 16917880). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. |
| Baylor Genetics | RCV003469639 | SCV004200181 | pathogenic | Arthrogryposis multiplex congenita 6 | 2023-08-10 | criteria provided, single submitter | clinical testing |