Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665581 | SCV000789727 | likely pathogenic | Nemaline myopathy 2 | 2017-02-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665581 | SCV001223052 | pathogenic | Nemaline myopathy 2 | 2023-09-29 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects an acceptor splice site in intron 155 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). This variant is present in population databases (rs757157808, gnomAD 0.007%). Disruption of this splice site has been observed in individual(s) with clinical features of nemaline myopathy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 550749). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003472071 | SCV004200055 | likely pathogenic | Arthrogryposis multiplex congenita 6 | 2023-10-25 | criteria provided, single submitter | clinical testing |