Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725415 | SCV000336807 | pathogenic | not provided | 2015-11-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763505 | SCV000894295 | pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2021-10-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000791498 | SCV000930750 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 959 of the DYSF protein (p.Arg959Trp). This variant is present in population databases (rs202218890, gnomAD 0.006%). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy and Myoshi myopathy (PMID: 14678801, 16934466, 17070050, 19528035, 21522182, 22194990). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 284254). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DYSF protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV000725415 | SCV001247518 | pathogenic | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000725415 | SCV001713177 | pathogenic | not provided | 2020-05-28 | criteria provided, single submitter | clinical testing | PS3, PS4_moderate, PM2, PP1, PP4 |
Revvity Omics, |
RCV000725415 | SCV002022159 | pathogenic | not provided | 2020-11-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725415 | SCV004034580 | pathogenic | not provided | 2023-09-05 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19528035, 26806107, 22194990, 14678801, 17994539, 16100712, 21522182, 17070050, 30028523, 31130284, 34426522, 31589614, 33258288, 32528171, 33715265, 33610434, 35175440, 34559919, 24438169) |
Preventiongenetics, |
RCV003401245 | SCV004119160 | pathogenic | DYSF-related condition | 2023-10-03 | criteria provided, single submitter | clinical testing | The DYSF c.2875C>T variant is predicted to result in the amino acid substitution p.Arg959Trp. This variant has been repeatedly reported in individuals with autosomal recessive dysferlinopathy; immunohistochemistry assays for these patients have demonstrated severely reduced to an absence of dysferlin protein expression (see Cagliani et al. 2003. PubMed ID: 14678801; Klinge et al. 2009. PubMed ID: 19528035; Gallardo et al. 2011. PubMed ID: 22194990; Arrigoni et al. 2018. PubMed ID: 30028523; Fanin et al. 2006. PubMed ID: 16934466; Guglieri et al. 2008. PubMed ID: 17994539; De Luna et al. 2006. PubMed ID: 17070050). This variant is reported in 0.0070% of alleles in individuals of European (non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-71797014-C-T). Taken together, this variant is interpreted as pathogenic. |
Baylor Genetics | RCV003469231 | SCV004194156 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-10-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000262612 | SCV000788615 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-04-28 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000262612 | SCV002082244 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-04 | no assertion criteria provided | clinical testing |