Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000415293 | SCV000328828 | pathogenic | Glycogen storage disease type III | 2015-06-02 | no assertion criteria provided | clinical testing | Our laboratory reported dual molecular diagnoses in AGL (NM_000028.2, c.3836+1G>A) and LPAR6 (NM_005767.4, c.436G>A) in an individual with reported features of motor and speech delay, seizure disorder, woolly sparse hair and eye brows, and massive hepatomegaly. The AGL variant is located at the invariant splice site in AGL and is predicted as deleterious according to ACMGG guidelines [PMID: 18414213]. |