Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV001287918 | SCV001474683 | uncertain significance | not provided | 2020-01-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001328753 | SCV001519943 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2019-11-07 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome- |
RCV001328753 | SCV002026504 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002537966 | SCV003279567 | benign | Spastic paraplegia | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV001328753 | SCV004048349 | uncertain significance | Charlevoix-Saguenay spastic ataxia | criteria provided, single submitter | clinical testing | The missense variant .8192G>A (p.Arg2731His)in SACS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is observed in 0.002% alleles in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. It has been submitted to ClinVar as a variant of uncertain significance. The amino acid Arginine at position 2731 is changed to a Histidine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance. | |
Natera, |
RCV001328753 | SCV002086212 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-02-03 | no assertion criteria provided | clinical testing |