Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248762 | SCV000312141 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
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, |
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- |
RCV000315880 | SCV001750110 | benign | Charlevoix-Saguenay spastic ataxia | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001618448 | SCV001845733 | benign | not provided | 2018-07-06 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001618448 | SCV005219371 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000248762 | SCV001958039 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000248762 | SCV001967871 | benign | not specified | no assertion criteria provided | clinical testing |