Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002572742 | SCV002930740 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2022-05-20 | criteria provided, single submitter | clinical testing | 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with BSCL2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 146 of the BSCL2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BSCL2 protein. This variant also falls at the last nucleotide of exon 4, which is part of the consensus splice site for this exon. |
| Athena Diagnostics | RCV004999780 | SCV005620489 | uncertain significance | not provided | 2024-02-23 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Computational tools yielded predictions that this variant may interfere with normal RNA splicing. |