Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000005848 | SCV000678155 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2015-09-03 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268308 | SCV001447139 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Medical Genetics Laboratory, |
RCV000005848 | SCV001622769 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000005848 | SCV002027640 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001847584 | SCV002105082 | pathogenic | Hereditary spastic paraplegia | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001851681 | SCV002124857 | pathogenic | Spastic paraplegia | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2502*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2078 amino acid(s) of the SACS protein. This variant is present in population databases (rs281865118, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with autosomal recessive spastic ataxia of Charlevoix-Saguenay (PMID: 10655055, 30901567). This variant is also known as g.5254C>T. ClinVar contains an entry for this variant (Variation ID: 5513). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000005848 | SCV004210031 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2023-02-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000005848 | SCV004223820 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2023-11-14 | criteria provided, single submitter | clinical testing | Variant summary: SACS c.7504C>T (p.Arg2502X) results in a premature termination codon, predicted to cause a truncation of the encoded protein, which is a commonly known mechanism for disease. While this variant is not expected to result in nonsense mediated decay, it is predicted to disrupt the last 2,078 amino acids of the protein. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 2e-05 in 251338 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.7504C>T has been reported in the literature in multiple individuals affected with Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay (e.g., Engert_2000). These data indicate that the variant is very likely to be associated with disease. The following publication was ascertained in the context of this evaluation (PMID: 10655055). Seven submitters have reported clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
PROSPAX |
RCV000005848 | SCV005044606 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2022-01-01 | criteria provided, single submitter | research | |
OMIM | RCV000005848 | SCV000026030 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2000-02-01 | no assertion criteria provided | literature only | |
Gene |
RCV000005848 | SCV000054638 | not provided | Charlevoix-Saguenay spastic ataxia | no assertion provided | literature only | ||
Molecular Genetics Laboratory, |
RCV000005848 | SCV000803693 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2017-10-25 | no assertion criteria provided | clinical testing |