Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000732109 | SCV000716170 | likely benign | not provided | 2020-09-02 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000732109 | SCV000860015 | uncertain significance | not provided | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000608615 | SCV001363617 | uncertain significance | not specified | 2019-04-11 | criteria provided, single submitter | clinical testing | Variant summary: GAA c.2800-9_2800-8delCT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00017 in 277090 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2800-9_2800-8delCT in individuals affected with Glycogen Storage Disease, Type 2 (Pompe Disease) and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (1xlikely benign, 1xVUS). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Genome- |
RCV001580525 | SCV001810205 | uncertain significance | Glycogen storage disease, type II | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001580525 | SCV002481974 | likely benign | Glycogen storage disease, type II | 2024-01-20 | criteria provided, single submitter | clinical testing |