Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000373496 | SCV000331728 | uncertain significance | not provided | 2016-04-18 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000681647 | SCV000809093 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2018-05-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000681647 | SCV000896348 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-07-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000681647 | SCV000914617 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2018-09-13 | criteria provided, single submitter | clinical testing | The SACS c.2996T>C (p.Ile999Thr) missense variant has been reported in a single individual in a compound heterozygous state with a missense variant (Muona et al. 2015). This individual was clinically diagnosed with progressive myoclonus epilepsy but had clinical features consistent for ARSACS. The p.Ile999Thr variant is reported at a frequency of 0.00028 in the African population of the Exome Aggregation Consortium. Based on the limited evidence, the p.Ile999Thr variant is classified as a variant of unknown significance but suspicious for pathogenicity for ARSACS. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Genome- |
RCV000681647 | SCV002026534 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002519084 | SCV003241934 | benign | Spastic paraplegia | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000373496 | SCV004229947 | uncertain significance | not provided | 2022-12-05 | 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 disagree on the variant's effect on normal protein function. |