ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter)

gnomAD frequency: 0.00001  dbSNP: rs774646420
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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 RCV001390321 SCV001592005 pathogenic Glycogen storage disease, type VI 2023-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076414). This variant has not been reported in the literature in individuals affected with PYGL-related conditions. This variant is present in population databases (rs774646420, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg576*) in the PYGL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PYGL are known to be pathogenic (PMID: 9536091, 21646031).

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