ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3836+1G>A (rs780883601)

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Total submissions: 1
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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].

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