Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000477527 | SCV000548871 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2022-11-23 | criteria provided, single submitter | clinical testing | 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: 66939). Disruption of this splice site has been observed in individual(s) with Emery-Dreifuss muscular dystrophy and/or LMNA-related conditions (PMID: 20848652, 30572990). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 4 of the LMNA 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 LMNA are known to be pathogenic (PMID: 18585512, 18926329). |
Epithelial Biology; Institute of Medical Biology, |
RCV000057465 | SCV000088579 | not provided | not provided | no assertion provided | not provided |