Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001043294 | SCV001207022 | likely benign | Spastic paraplegia | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV002280151 | SCV002568270 | uncertain significance | not provided | 2022-04-04 | criteria provided, single submitter | clinical testing | PM2 |
Ambry Genetics | RCV003160304 | SCV003892725 | uncertain significance | Inborn genetic diseases | 2023-01-20 | criteria provided, single submitter | clinical testing | The c.5045G>A (p.R1682K) 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 5045, causing the arginine (R) at amino acid position 1682 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001832412 | SCV002086261 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-08-27 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003953443 | SCV004774241 | uncertain significance | SACS-related disorder | 2024-02-27 | no assertion criteria provided | clinical testing | The SACS c.5045G>A variant is predicted to result in the amino acid substitution p.Arg1682Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0050% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |