Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245574 | SCV000305385 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001083631 | SCV000626708 | benign | Glycogen storage disease type III | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000245574 | SCV000731011 | benign | not specified | 2017-04-04 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000245574 | SCV000918402 | benign | not specified | 2018-03-29 | criteria provided, single submitter | clinical testing | Variant summary: AGL c.2802A>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 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 0.0023 in 276798 control chromosomes, predominantly within the African subpopulation at a frequency of 0.025, including 3 homozygotes (gnomAD). The observed variant frequency within African control individuals in the gnomAD database is approximately 11-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in AGL causing Glycogen Storage Disease Type III phenotype (0.0023), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. To our knowledge, no occurrence of c.2802A>C in individuals affected with Glycogen Storage Disease Type III and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as "benign." Based on the evidence outlined above, the variant was classified as benign. |
ARUP Laboratories, |
RCV000675331 | SCV002049847 | benign | not provided | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001083631 | SCV002055060 | benign | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000675331 | SCV000800997 | likely benign | not provided | 2017-10-16 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001083631 | SCV001456536 | benign | Glycogen storage disease type III | 2020-09-16 | no assertion criteria provided | clinical testing |