ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.425-5T>G

gnomAD frequency: 0.00002  dbSNP: rs1025550045
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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 RCV001877145 SCV002128563 uncertain significance Glycogen storage disease, type VI 2020-12-02 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 with PYGL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 3 of the PYGL gene. It does not directly change the encoded amino acid sequence of the PYGL protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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