Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ce |
RCV000416117 | SCV000493274 | likely pathogenic | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000416117 | SCV000700992 | pathogenic | not provided | 2017-03-04 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000416117 | SCV000709976 | pathogenic | not provided | 2018-03-12 | criteria provided, single submitter | clinical testing | The c.5022delT variant in the DYSF gene has been reported previously, using alternate nomenclature 5393delT, in an affected individual with limb-girdle muscular dystrophy 2B who also harbored a DYSF nonsense variant, although it is unknown if parental studies were performed to determine the phase of these two variants (Walter et al., 2003). The c.5022delT has also been reported in an individual with Miyoshi myopathy who also harbored a DYSF missense variant, however, the phase of these variants is not known (Walter et al., 2013). The c.5022delT variant causes a frameshift starting with codon Phenylalanine 1674, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 48 of the new reading frame, denoted p.Phe1674LeufsX48. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5022delT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.5022delT as a pathogenic variant. |
| Invitae | RCV001384057 | SCV001583429 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-02-01 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 14673575). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 374503). This variant is also known as 5393delT. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe1674Leufs*48) 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). |
| Baylor Genetics | RCV003470372 | SCV004196507 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-06-21 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000984169 | SCV001132182 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2018-02-21 | no assertion criteria provided | clinical testing |