Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690078 | SCV000817755 | pathogenic | Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 | 2018-12-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val5Trpfs*18) in the SIGMAR1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SIGMAR1 are known to be pathogenic (PMID: 6078401, 27402882, 29115704, 28708278). This variant has not been reported in the literature in individuals with SIGMAR1-related conditions. |