Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517136 | SCV000613201 | pathogenic | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with Miyoshi muscular dystrophy and in at least one individual with clinical features associated with limb-girdle muscular dystrophy. |
Invitae | RCV000689015 | SCV000816650 | pathogenic | Qualitative or quantitative defects of dysferlin | 2022-08-25 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individuals with Miyoshi myopathy and limb-girdle muscular dystrophy (PMID: 18853459, 19528035, 26916285, 27447704). This variant is present in population databases (rs766341386, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ser1173Phefs*2) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). ClinVar contains an entry for this variant (Variation ID: 370730). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003470334 | SCV004194174 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410481 | SCV000486119 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2016-11-02 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000410481 | SCV002082286 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-05-18 | no assertion criteria provided | clinical testing |