Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000711544 | SCV000339537 | pathogenic | not provided | 2016-02-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000700616 | SCV000829378 | pathogenic | Qualitative or quantitative defects of dysferlin | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 11 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 (rs398123763, gnomAD 0.007%). Disruption of this splice site has been observed in individual(s) with clinical features of dysferlinopathy (PMID: 24488599, 33610434). ClinVar contains an entry for this variant (Variation ID: 94262). 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. |
Athena Diagnostics Inc | RCV000711544 | SCV000841922 | pathogenic | not provided | 2018-03-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763501 | SCV000894291 | likely pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003466976 | SCV004192256 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-02-13 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000711544 | SCV004234855 | pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000174082 | SCV000791948 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-06-01 | no assertion criteria provided | clinical testing |