ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8853T>C (p.Val2951=) (rs9552929)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118234 SCV000225025 benign not specified 2014-09-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118234 SCV000312162 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372801 SCV000383319 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000118234 SCV000918181 benign not specified 2017-10-19 criteria provided, single submitter clinical testing Variant summary: The SACS c.8853T>C (p.Val2951Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SRp55. However, these predictions have yet to be confirmed by functional studies. This variant was found in 74944/252514 control chromosomes (127 homozygotes) at a frequency of 0.2967915, which is approximately 38 times the estimated maximal expected allele frequency of a pathogenic SACS variant (0.0079057), suggesting this variant is likely a benign polymorphism. This variant has been reported in a validation study with high allele frequency and was classified as polymorphism by authors (Vermeer_2009). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
Genetic Services Laboratory,University of Chicago RCV000118234 SCV000152593 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676356 SCV000802131 benign not provided 2016-02-19 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.