Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics and Genomics, |
RCV000512137 | SCV000607738 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-10-11 | criteria provided, single submitter | clinical testing | ACMG: +PVS1 +PM2 +PP3 |
Genomic Research Center, |
RCV000512137 | SCV000746544 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000512137 | SCV000796693 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-12-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001217776 | SCV001389628 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 26 of the DYSF 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 DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant is present in population databases (rs199954546, gnomAD 0.002%). Disruption of this splice site has been observed in individual(s) with dysferlinopathy (PMID: 17994539, 18853459, 26000923). This variant is also known as IVS26+1G>A. ClinVar contains an entry for this variant (Variation ID: 443997). 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. |
Gene |
RCV002286745 | SCV002577127 | pathogenic | not provided | 2022-03-10 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in an individual with Miyoshi myopathy in published literature who also harbored a second DYSF variant in trans (Chakravorty et al., 2021); This variant is associated with the following publications: (PMID: 27602406, 31589614, 33610434, 33726816, 26000923, 22213072, Chakravorty2021[Preprint], 18853459) |
Baylor Genetics | RCV001263253 | SCV004194188 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Neuromuscular Department, |
RCV001263253 | SCV001441253 | pathogenic | Miyoshi muscular dystrophy 1 | 2020-10-23 | no assertion criteria provided | clinical testing | Since age of 15, the patient developed bilateral foot plantar flexion weakness, difficulty climbing upstairs and some wasting of calf muscles. CK had been elevated and the EMG was myopathic. |