Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000387536 | SCV000333119 | uncertain significance | not provided | 2015-07-15 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001080587 | SCV000626512 | likely benign | Glycogen storage disease, type II | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Broad Center for Mendelian Genomics, |
RCV001080587 | SCV001422895 | likely benign | Glycogen storage disease, type II | 2020-01-22 | criteria provided, single submitter | curation | The c.1425G>A (p.Pro475=) variant in GAA has not been previously reported in individuals with Glycogen Storage Disease II but has been reported as a VUS by EGL Genetic Diagnostics and a likely benign variant by Invitae in ClinVar (Variation ID: 281994). This variant has been identified in 0.031% (11/35380) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs753140491). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. However, novel synonymous variants supported by computational evidence without raised suspicion for an impact are likely benign (Richards 2015). In summary, although additional studies are required to fully establish its clinical significance, this variant is likely benign. ACMG/AMP Criteria applied: PM2, BP4, BP7 (Richards 2015). |
| Genome- |
RCV001080587 | SCV001810605 | likely benign | Glycogen storage disease, type II | 2021-07-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002392796 | SCV002698428 | likely benign | Cardiovascular phenotype | 2022-05-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |