Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000992916 | SCV001145515 | likely pathogenic | not provided | 2018-11-15 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/281386 chr). |
| Revvity Omics, |
RCV000992916 | SCV002019143 | likely pathogenic | not provided | 2021-07-07 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002549815 | SCV003284854 | pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2023-02-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val205Leufs*2) in the SCN9A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN9A are known to be pathogenic (PMID: 17470132, 19304393). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autism spectrum disorder (PMID: 25621899). This variant is also known as c.612_613insTT (p.V205fs). ClinVar contains an entry for this variant (Variation ID: 805403). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |