ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.280C>T (p.Arg94Ter)

gnomAD frequency: 0.00005  dbSNP: rs113993973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000020502 SCV000932059 pathogenic Glycogen storage disease, type VI 2022-03-22 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: 21337). This premature translational stop signal has been observed in individual(s) with glycogen storage disease type VI (PMID: 32268899). This variant is present in population databases (rs113993973, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg94*) 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).
Fulgent Genetics, Fulgent Genetics RCV000020502 SCV005629308 pathogenic Glycogen storage disease, type VI 2024-02-07 criteria provided, single submitter clinical testing
GeneReviews RCV000020502 SCV000040952 not provided Glycogen storage disease, type VI no assertion provided literature only

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