Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001204396 | SCV001375602 | likely pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 2023-06-20 | criteria provided, single submitter | clinical testing | 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 DNAJB6 protein function. Experimental studies have shown that this missense change affects DNAJB6 function (PMID: 31955980). 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. ClinVar contains an entry for this variant (Variation ID: 500303). This missense change has been observed in individuals with adult onset distal myopathy (PMID: 31955980). 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 sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 50 of the DNAJB6 protein (p.Ala50Val). |
| Revvity Omics, |
RCV001204396 | SCV003823301 | pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 2022-11-30 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000596914 | SCV000706190 | uncertain significance | not provided | 2017-02-03 | flagged submission | clinical testing |