ClinVar Miner

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

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Total submissions: 12
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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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
Athena Diagnostics Inc RCV000118234 SCV001475444 benign not specified 2019-09-04 criteria provided, single submitter clinical testing
Invitae RCV001517095 SCV001725509 benign Spastic paraplegia 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000372801 SCV001750105 benign Charlevoix-Saguenay spastic ataxia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000676356 SCV001867079 benign not provided 2018-07-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19779133)
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 Laboratories, Mayo Clinic RCV000676356 SCV000802131 benign not provided 2016-02-19 no assertion criteria provided clinical testing
Natera, Inc. RCV000372801 SCV001459488 benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000118234 SCV001952280 benign not specified no assertion criteria provided clinical testing

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