ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.660+16G>A

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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 RCV002612581 SCV003513238 uncertain significance Glycogen storage disease, type VI 2022-11-22 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the PYGL gene. It does not directly change the encoded amino acid sequence of the PYGL protein. This variant is present in population databases (rs368389304, gnomAD 0.03%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with PYGL-related conditions.

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