ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.229_231del (p.Asp77del)

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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 RCV003513626 SCV004297097 uncertain significance Glycogen storage disease, type VI 2023-12-20 criteria provided, single submitter clinical testing This variant, c.229_231del, results in the deletion of 1 amino acid(s) of the PYGL protein (p.Asp77del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has been observed in individuals with glycogen storage disease type VI (PMID: 25070466, 33782433). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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