ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs) (rs1057516994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409602 SCV000486559 likely pathogenic Glycogen storage disease type III 2016-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000481572 SCV000568794 pathogenic not provided 2016-11-23 criteria provided, single submitter clinical testing The c.4322_4323dupAA pathogenic variant in the AGL gene has been reported previously using alternate nomenclature (c.4323_4324insAA or c.4724insAA), either in the homozygous state or in combination with another AGL variant, in several individuals with a diagnosis of glycogen storage disease type III confirmed by enzyme analysis (Decostre et al., 2016; Lucchiari et al., 2002). The c.4322_4323dupAA variant causes a frameshift starting with codon Glycine 1442, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Gly1442LysfsX28. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4322_4323dupAA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.4322_4323dupAA as a pathogenic variant.

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