Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000296321 | SCV000338656 | uncertain significance | not provided | 2016-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000689297 | SCV000816940 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2022-07-26 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1090 of the DYSF protein (p.Arg1090Cys). This variant is present in population databases (rs377079619, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 285577). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Revvity Omics, |
RCV000296321 | SCV003829576 | uncertain significance | not provided | 2022-10-27 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276441 | SCV001462787 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing |