Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000001168 | SCV000253955 | pathogenic | Spastic paraplegia 11, autosomal recessive | 2015-03-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 2034 (p.Arg2034*). It is expected to result in an absent or disrupted protein product. Truncating variants in SPG11 are known to be pathogenic. This particular truncation has been reported in the literature in patients with autosomal recessive hereditary spastic paraplegia. (PMID: 17322883, 18332254, 18079167, 18663179, 19438933.). For these reasons, this variant has been classified as Pathogenic. |
Athena Diagnostics Inc | RCV000518418 | SCV000615421 | pathogenic | not provided | 2017-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000518418 | SCV000748243 | pathogenic | not provided | 2018-05-08 | criteria provided, single submitter | clinical testing | The R2034X nonsense variant in the SPG11 gene has been reported previously in the homozygous state in several unrelated patients with spastic paraplegia with thin corpus callosum (Stevanin et al., 2007). The R2034X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
OMIM | RCV000001168 | SCV000021318 | pathogenic | Spastic paraplegia 11, autosomal recessive | 2015-11-10 | no assertion criteria provided | literature only | |
Gene |
RCV000001168 | SCV000058181 | pathologic | Spastic paraplegia 11, autosomal recessive | 2013-01-31 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
OMIM | RCV000202373 | SCV000257388 | pathogenic | Charcot-Marie-Tooth disease, axonal type 2X | 2015-11-10 | no assertion criteria provided | literature only | |
Baylor Genetics | RCV000414837 | SCV000328861 | pathogenic | Spastic paraplegia 11, autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2X | 2015-05-27 | no assertion criteria provided | clinical testing | Our laboratory reported three molecular diagnoses in CA2 (NM_000067.2, c.232+1G>A), MCCC2 (NM_022132.4, c.1015G>A), and SPG11 (NM_025137.3, c.6100C>T) in one individual with clinical features of global developmental delay, developmental regression, autistic features, intellectual disability, hypotonia, ataxia, dysmorphic features, short stature, microcephaly, hyperextensibility, failure to thrive, structural brain abnormalities, skeletal abnormalities, and limb malformation. The CA2 variant has been previously reported as disease-causing [PMID 1301935]. Heterozygotes would be expected to be asymptomatic carriers. |