Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236174 | SCV001408887 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-11-20 | criteria provided, single submitter | clinical testing | This sequence change affects a splice site in intron 8 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 (rs786200898, gnomAD 0.009%). Disruption of this splice site has been observed in individual(s) with dysferlin deficient muscular dystrophy (PMID: 16010686, 18306167, 19528035). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6684). 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 | RCV003466825 | SCV004192274 | pathogenic | Miyoshi muscular dystrophy 1 | 2022-12-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000007071 | SCV000027267 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2008-03-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000007071 | SCV002079773 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-11-23 | no assertion criteria provided | clinical testing |