Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988189 | SCV001137823 | benign | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000988189 | SCV001387769 | uncertain significance | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 2024-10-29 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 665 of the BICD2 protein (p.Val665Leu). This variant is present in population databases (rs587777885, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of motor neuropathy (PMID: 25802885). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 155729). Invitae Evidence Modeling incorporating data from in vitro experimental studies (internal data) indicates that this missense variant is not expected to disrupt BICD2 function with a negative predictive value of 95%. 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. |
Ce |
RCV000143798 | SCV004704209 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | BICD2: BP4 |
Northcott Neuroscience Laboratory, |
RCV000143798 | SCV000188690 | likely benign | not provided | no assertion criteria provided | not provided | Converted during submission from probable-non-pathogenic to Likely benign. | |
Inherited Neuropathy Consortium | RCV000789076 | SCV000928425 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |