ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1353dup (p.Ala452fs)

gnomAD frequency: 0.00001  dbSNP: rs779562449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381560 SCV001580000 pathogenic Glycogen storage disease, type V 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala452Argfs*23) in the PYGM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PYGM are known to be pathogenic (PMID: 8316268, 16786513). This variant is present in population databases (rs779562449, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with McArdle disease (PMID: 34534370). ClinVar contains an entry for this variant (Variation ID: 1069632). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001381560 SCV004207263 pathogenic Glycogen storage disease, type V 2023-06-15 criteria provided, single submitter clinical testing
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV003318688 SCV004022487 likely pathogenic Tip-toe gait 2023-01-10 no assertion criteria provided clinical testing

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