ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.-13A>G

gnomAD frequency: 0.27905  dbSNP: rs17078720
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248762 SCV000312141 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315880 SCV000383395 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 RCV000248762 SCV000920179 benign not specified 2018-06-04 criteria provided, single submitter clinical testing Variant summary: SACS c.-13A>G is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 0.32 in 120084 control chromosomes in the ExAC database, including 6625 homozygotes. The observed variant frequency is approximately 41 fold above the estimated maximal expected allele frequency for a pathogenic variant in SACS causing Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay phenotype (0.0079), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.-13A>G in individuals affected with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign.
Genome-Nilou Lab RCV000315880 SCV001750110 benign Charlevoix-Saguenay spastic ataxia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001618448 SCV001845733 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618448 SCV005219371 likely benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000248762 SCV001958039 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000248762 SCV001967871 benign not specified no assertion criteria provided clinical testing

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