Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411845 | SCV000485347 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2015-11-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000411845 | SCV001382785 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 4 of the SGCB 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 SGCB are known to be pathogenic (PMID: 15938573, 18285821). This variant is present in population databases (rs780596734, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with limb-girdle muscular dystrophy (PMID: 12566530). ClinVar contains an entry for this variant (Variation ID: 370115). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000411845 | SCV004208741 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000411845 | SCV002082978 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2021-10-05 | no assertion criteria provided | clinical testing |