Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790680 | SCV000230815 | pathogenic | not provided | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000178688 | SCV000799725 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2018-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001384247 | SCV001583670 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-12-28 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1837 of the DYSF protein (p.Asp1837Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with DYSF-related conditions (PMID: 11257469, 22194990). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 94340). 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. |
Kariminejad - |
RCV001814049 | SCV001755172 | likely pathogenic | Abnormality of the musculature | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003466987 | SCV004194199 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-09-27 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000790680 | SCV004234859 | pathogenic | not provided | 2023-11-16 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000178688 | SCV002080330 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-02-03 | no assertion criteria provided | clinical testing |