ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.2544_*12del (p.Ter848CysextTer?)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002943142 SCV003276436 uncertain significance Glycogen storage disease, type VI 2022-06-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with PYGL-related conditions. This variant is present in population databases (rs752100457, gnomAD 0.01%). This sequence change disrupts the translational stop signal of the PYGL mRNA. It is expected to extend the length of the PYGL protein by 2 additional amino acid residues.

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