ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)

gnomAD frequency: 0.00005  dbSNP: rs150547274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175037 SCV000226463 pathogenic not provided 2015-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516658 SCV003473080 pathogenic Glycogen storage disease, type VI 2022-11-23 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: 194626). This variant has not been reported in the literature in individuals affected with PYGL-related conditions. This variant is present in population databases (rs150547274, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Tyr649*) 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).
Revvity Omics, Revvity RCV002516658 SCV004238607 likely pathogenic Glycogen storage disease, type VI 2023-07-10 criteria provided, single submitter clinical testing

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