Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040200 | SCV001203761 | likely pathogenic | Hereditary spastic paraplegia 11 | 2019-01-26 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in SPG11 are known to be pathogenic (PMID: 19105190, 20110243, 22154821, 26556829). This variant has not been reported in the literature in individuals with SPG11-related conditions. This variant is a deletion of the genomic region encompassing part of exon 17 (c.3114_3145+45del) of the SPG11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |