Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000516715 | SCV000614964 | uncertain significance | not provided | 2018-09-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002527520 | SCV003243941 | uncertain significance | Spastic paraplegia | 2023-08-04 | criteria provided, single submitter | clinical testing | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SACS protein function. ClinVar contains an entry for this variant (Variation ID: 448209). This variant has not been reported in the literature in individuals affected with SACS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 198 of the SACS protein (p.Tyr198Cys). |
Ambry Genetics | RCV004659081 | SCV005158975 | uncertain significance | Inborn genetic diseases | 2024-05-28 | criteria provided, single submitter | clinical testing | The c.593A>G (p.Y198C) alteration is located in exon 7 (coding exon 6) of the SACS gene. This alteration results from a A to G substitution at nucleotide position 593, causing the tyrosine (Y) at amino acid position 198 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001834670 | SCV002086751 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-10-22 | no assertion criteria provided | clinical testing |