Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000992175 | SCV001144232 | uncertain significance | not provided | 2019-04-30 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001203443 | SCV001374609 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2L | 2023-12-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro90Thrfs*37) in the HSPB8 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HSPB8 cause disease. 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 variant has not been reported in the literature in individuals affected with HSPB8-related conditions. ClinVar contains an entry for this variant (Variation ID: 804924). 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. |
| Gene |
RCV000992175 | SCV001814521 | uncertain significance | not provided | 2021-03-04 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |