Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003226643 | SCV003922539 | pathogenic | Glycogen storage disease, type II | 2023-03-15 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 18 in the GAA gene. A presumed nomenclature of c.(2481+1_2482-1)_(2646+1_2647-1)del has been designated for the purposes of this classification. It is expected to result in a large in-frame deletion change in the GAA gene, a known mechanism of disease. An exon 18 deletion allele was found at a frequency of 4.6e-05 in 21694 control chromosomes (gnomAD, Structural Variants dataset). Deletion of exon 18 has been reported in the literature in multiple individuals affected with Glycogen Storage Disease, Type 2 (Pompe Disease) (e.g. Huie_1994, Van der Kraan_1994, Vanherpe_2020). These data indicate that the variant is very likely to be associated with disease. Three submitters have provided clinical-significance assessments for exon 18 deletion variants to ClinVar after 2014 , and all laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |