Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000032007 | SCV000798075 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2018-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001244900 | SCV001418153 | uncertain significance | Spastic paraplegia | 2021-08-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 3636 of the SACS protein (p.Arg3636Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs281865119, ExAC 0.002%). This missense change has been observed in individual(s) with clinical features of autosomal recessive spastic ataxia of Charlevoix-Saguenay in which this allele occurred in the homozygous state or in trans with an additional SACS variant on the opposite allele (PMID: 20876471). ClinVar contains an entry for this variant (Variation ID: 38457). 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. |
Genome- |
RCV000032007 | SCV002026488 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000032007 | SCV000054716 | not provided | Charlevoix-Saguenay spastic ataxia | no assertion provided | literature only | ||
Natera, |
RCV000032007 | SCV002086166 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-01-13 | no assertion criteria provided | clinical testing |