Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000695540 | SCV000824047 | likely benign | Glycogen storage disease, type II | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000731464 | SCV000859285 | uncertain significance | not provided | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000731464 | SCV001793186 | uncertain significance | not provided | 2022-12-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22253258) |
Genome- |
RCV000695540 | SCV001810196 | uncertain significance | Glycogen storage disease, type II | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000695540 | SCV002038535 | uncertain significance | Glycogen storage disease, type II | 2021-05-13 | criteria provided, single submitter | clinical testing | The GAA c.250G>A (p.Val84Ile) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000408 in the African/African American population of the Genome Aggregation Database (version 2.1.1). Multiple computational analyses predict this variant to have no impact on the gene or gene product, though these predictions have not been experimentally confirmed. Based on the limited evidence, the p.Val84Ile variant is classified as a variant of uncertain significance for glycogen storage disease type II. |