ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8192G>A (p.Arg2731His)

gnomAD frequency: 0.00004  dbSNP: rs201127191
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
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-Nilou Lab 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, Neuberg Centre for Genomic Medicine 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, Inc. RCV001328753 SCV002086212 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-02-03 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.