ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter)

dbSNP: rs140102591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211508 SCV001383051 pathogenic Glycogen storage disease, type V 2022-06-08 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: 941671). This premature translational stop signal has been observed in individual(s) with McArdle's disease (PMID: 21802952). This variant is present in population databases (rs140102591, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Tyr733*) 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).
Baylor Genetics RCV001211508 SCV004207285 pathogenic Glycogen storage disease, type V 2023-03-23 criteria provided, single submitter clinical testing

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