Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667372 | SCV000791806 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Paris Brain Institute, |
RCV000667372 | SCV001451184 | pathogenic | Charlevoix-Saguenay spastic ataxia | criteria provided, single submitter | clinical testing | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000667372 | SCV001468292 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2020-12-25 | criteria provided, single submitter | clinical testing | Variant summary: SACS c.6172delT (p.Ser2058LeufsX19) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 248418 control chromosomes. c.6172delT has been reported in the literature in individuals affected with Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay and subsequently cited by others (example Yamamoto_2005). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
Genome- |
RCV000667372 | SCV002027647 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing |