ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2670del (p.Pro891fs) (rs764591009)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658137 SCV000779908 pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing The c.2670delT variant in the AGL gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2670delT variant causes a frameshift starting with codon Proline 891, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Pro891LeufsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2670delT variant is not observed at any significant frequency in large population cohorts (Lek et al., 2016). We interpret c.2670delT as a pathogenic variant.
Invitae RCV001062864 SCV001227687 pathogenic Glycogen storage disease type III 2020-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro891Leufs*9) in the AGL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764591009, ExAC 0.01%). This variant has not been reported in the literature in individuals with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 546284). Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). For these reasons, this variant has been classified as Pathogenic.

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