Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552425 | SCV000649699 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1504 of the DYSF protein (p.Val1504Ile). This variant is present in population databases (rs143895253, gnomAD 0.2%). 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: 471308). 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: "Tolerated"; 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. |
Eurofins Ntd Llc |
RCV000595695 | SCV000701740 | likely benign | not specified | 2016-09-28 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001507565 | SCV001713186 | uncertain significance | not provided | 2019-12-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001507565 | SCV003831282 | uncertain significance | not provided | 2023-05-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960357 | SCV004770635 | likely benign | DYSF-related condition | 2023-06-13 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001274843 | SCV001459359 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-12-27 | no assertion criteria provided | clinical testing |