Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790765 | SCV000228627 | pathogenic | not provided | 2012-12-26 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000176869 | SCV000789206 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-01-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001232546 | SCV001405108 | pathogenic | Qualitative or quantitative defects of dysferlin | 2024-01-15 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 999 of the DYSF protein (p.Trp999Cys). This variant is present in population databases (rs28937581, gnomAD 0.02%). This missense change has been observed in individual(s) with dysferlinopathies (PMID: 12796534, 15293763, 22849992, 27363342, 27647186, 30366248). ClinVar contains an entry for this variant (Variation ID: 6674). 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 95%. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000007059 | SCV004194159 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-10-25 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000007059 | SCV000027255 | pathogenic | Miyoshi muscular dystrophy 1 | 2003-06-10 | no assertion criteria provided | literature only | |
Department of Rehabilitation Medicine, |
RCV000176869 | SCV000882776 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-02-11 | no assertion criteria provided | research | The proband has another variant, NM_003494.3: c.779C>G (p.Pro260Arg). |
Gene |
RCV000007059 | SCV001981613 | not provided | Miyoshi muscular dystrophy 1 | no assertion provided | literature only | Common variant assoc with milder form | |
Natera, |
RCV000176869 | SCV002082252 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-12-31 | no assertion criteria provided | clinical testing |