Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000599552 | SCV000228343 | pathogenic | not provided | 2016-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000546602 | SCV000649638 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-12-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala927Leufs*21) 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). This variant is present in population databases (rs745407251, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy or pseudometabolic muscular dystrophy (PMID: 16010686, 17825554, 18832576, 18853459, 19084402, 22194990, 25821721). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6685). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000599552 | SCV000709975 | pathogenic | not provided | 2017-12-28 | criteria provided, single submitter | clinical testing | The c.2779delG pathogenic variant in the DYSF gene has been previously reported multiple times in association with DYSF-related disorders when present in the homozygous state or when in trans with another pathogenic DYSF variant (Krahn et al., 2009; Paradas et al., 2009; Ceyhan-Birsoy et al., 2015). This variant is observed in 7/34,416 (0.02%) alleles from individuals of Latino background (Lek et al., 2016). The c.2779delG variant causes a frameshift starting with codon Alanine 927, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Ala927LeufsX21. This variant is predicted to cause loss of normal protein function either through protein truncation of nonsense-mediated mRNA decay. |
Athena Diagnostics | RCV000599552 | SCV001477220 | pathogenic | not provided | 2020-08-31 | 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 multiple unrelated individuals with clinical features associated with this gene (PMID:25821721, 22194990, 19084402, 16010686, 18853459, 17825554). In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. |
Revvity Omics, |
RCV000599552 | SCV002021826 | pathogenic | not provided | 2023-06-19 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics Munich, |
RCV000311139 | SCV002764676 | pathogenic | Miyoshi muscular dystrophy 1 | 2021-05-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000599552 | SCV003916115 | pathogenic | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | DYSF: PVS1, PM2, PM3, PS4:Supporting |
Baylor Genetics | RCV000311139 | SCV004194187 | pathogenic | Miyoshi muscular dystrophy 1 | 2024-02-24 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000007072 | SCV000027268 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2009-01-01 | no assertion criteria provided | literature only | |
Genetic Diseases Diagnostic Center, |
RCV000311139 | SCV000864397 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2018-12-18 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000007072 | SCV001458660 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing | |
Gene |
RCV000311139 | SCV001981612 | not provided | Miyoshi muscular dystrophy 1 | no assertion provided | literature only | Founder variant in Jews of the Caucasus |