Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673856 | SCV000799104 | likely pathogenic | Glycogen storage disease, type II | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673856 | SCV003442418 | pathogenic | Glycogen storage disease, type II | 2022-02-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557684). This premature translational stop signal has been observed in individual(s) with clinical features of Pompe disease (PMID: 18425781, 22252923). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu389Argfs*3) in the GAA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923). |