Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000317718 | SCV000383378 | uncertain significance | Spastic ataxia Charlevoix-Saguenay type | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000464896 | SCV000552971 | uncertain significance | Spastic paraplegia | 2018-07-03 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with leucine at codon 488 of the SACS protein (p.Pro488Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs375875022, ExAC 0.009%). This variant has not been reported in the literature in individuals with SACS-related disease. ClinVar contains an entry for this variant (Variation ID: 311562). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Athena Diagnostics Inc | RCV000712962 | SCV000843522 | uncertain significance | not provided | 2018-03-28 | criteria provided, single submitter | clinical testing |