ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.-13A>G (rs17078720)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000315880 SCV000383395 likely benign Spastic ataxia Charlevoix-Saguenay type 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.
PreventionGenetics RCV000248762 SCV000312141 benign not specified criteria provided, single submitter clinical testing

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