Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673203 | SCV000798379 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2018-03-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001035887 | SCV001199227 | likely pathogenic | Qualitative or quantitative defects of dysferlin | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2066 of the DYSF protein (p.Ala2066Thr). This variant is present in population databases (rs746663568, gnomAD 0.002%). This missense change has been observed in individual(s) with dysferlinopathy and/or limb girdle muscular dystrophy (PMID: 21522182, 27066573, 32400077, 32528171, 34559919; Invitae). This variant is also known as c.6313G>A, p.A2105T. ClinVar contains an entry for this variant (Variation ID: 557110). 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 not expected to disrupt DYSF protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Revvity Omics, |
RCV003144473 | SCV003831296 | uncertain significance | not provided | 2019-03-14 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003465524 | SCV004196533 | pathogenic | Miyoshi muscular dystrophy 1 | 2024-02-20 | criteria provided, single submitter | clinical testing |