Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000323235 | SCV000331597 | pathogenic | not provided | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000809801 | SCV000949977 | pathogenic | Qualitative or quantitative defects of dysferlin | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1278*) 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 (rs727503911, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with distal myopathy (PMID: 16010686, 17698709, 25135358). ClinVar contains an entry for this variant (Variation ID: 167025). For these reasons, this variant has been classified as Pathogenic. |
Johns Hopkins Genomics, |
RCV000984259 | SCV001430649 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-06-16 | criteria provided, single submitter | clinical testing | This DYSF variant (rs727503911) is rare (<0.1%) in a large population dataset4 (gnomAD: 4/279112 total alleles; 0.0014%; no homozygotes) and has an entry in ClinVar. This variant has been reported previously in a homozygous or compound heterozygous state in individuals affected with LGMDR2 or MMD1. This nonsense variant results in a premature stop codon in exon 34 of 56 likely leading to nonsense?mediated decay and lack of protein production. We consider this variant to be pathogenic. |
Revvity Omics, |
RCV000323235 | SCV002021862 | pathogenic | not provided | 2021-05-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492572 | SCV002781083 | pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000323235 | SCV004154967 | pathogenic | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | DYSF: PVS1, PM2, PM3 |
Baylor Genetics | RCV003467211 | SCV004194175 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003917498 | SCV004736704 | pathogenic | DYSF-related condition | 2023-11-14 | criteria provided, single submitter | clinical testing | The DYSF c.3832C>T variant is predicted to result in premature protein termination (p.Gln1278*). This variant was reported in individuals with DYSF-related muscular dystrophy (Nguyen et al 2005. PubMed ID: 16010686; Klinge et al 2009. PubMed ID: 19528035; Moore et al 2021. PubMed ID: 33610434; Stehlíková et al 2014. PubMed ID: 25135358). This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-71827961-C-T). Nonsense variants in DYSF are expected to be pathogenic. This variant is interpreted as pathogenic. |
Counsyl | RCV000984259 | SCV001132383 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2016-11-18 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000984259 | SCV001462798 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing |