Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001195790 | SCV001366210 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2018-10-31 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2. |
Invitae | RCV002559244 | SCV002998769 | likely benign | Spastic paraplegia | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002560209 | SCV003660510 | uncertain significance | Inborn genetic diseases | 2022-11-17 | criteria provided, single submitter | clinical testing | The c.4724G>A (p.R1575Q) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a G to A substitution at nucleotide position 4724, causing the arginine (R) at amino acid position 1575 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Athena Diagnostics Inc | RCV003482337 | SCV004229949 | uncertain significance | not provided | 2023-08-23 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is damaging. |