ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1437+8G>A (rs779194427)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559894 SCV000626513 likely benign Glycogen storage disease, type II 2020-12-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780266 SCV000917382 uncertain significance not specified 2017-09-25 criteria provided, single submitter clinical testing Variant summary: c.1437+8G>A gene is an intronic change that involves a non-conserved nucleotide. 4/5 programs in Alamut indicate this variant to not affect a normal splicing pattern, however no functional studies supporting these predictions were published at the time of evaluation. The variant is present in the control population datasets of ExAC and gnomAD at frequency of 0.00011 (12/ 116298 and 29/ 243980 chrs tested, respectively), predominantly in individuals of South Asian descent (0.0008774; 10/16372 and 27/30772, chrs respectively, including 1 homozygote occurrence). The observed individual frequencies do not exceed the maximum expected allele frequency for a pathogenic variant of 0.004. The variant of interest has not, to our knowledge, been cited by published reports or reputable databases/clinical laboratories. Taken together, the variant was classified as VUS-Possibly Benign until more data become available.

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