Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179260 | SCV000231481 | uncertain significance | not provided | 2016-05-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000812980 | SCV000953310 | uncertain significance | Glycogen storage disease, type II | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 6 of the GAA gene. It does not directly change the encoded amino acid sequence of the GAA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs754290055, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 198047). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome- |
RCV000812980 | SCV002027252 | uncertain significance | Glycogen storage disease, type II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003488429 | SCV004241650 | uncertain significance | not specified | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000812980 | SCV001455602 | uncertain significance | Glycogen storage disease, type II | 2020-09-16 | no assertion criteria provided | clinical testing |