ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.78_79del (p.Glu27fs)

gnomAD frequency: 0.00001  dbSNP: rs755117847
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169106 SCV000220305 likely pathogenic Glycogen storage disease, type V 2014-05-13 criteria provided, single submitter literature only
GeneDx RCV001008110 SCV001167860 pathogenic not provided 2020-01-07 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 18067156, 19670320, 15979037, 29926259, 29143597, 21802952, 17404776, 16786513, 32528171)
Invitae RCV000169106 SCV002228472 pathogenic Glycogen storage disease, type V 2023-09-19 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: 188778). This variant is also known as T25fs. This premature translational stop signal has been observed in individual(s) with PYGM-related conditions (PMID: 15979037). This variant is present in population databases (rs755117847, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu27Alafs*50) 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 RCV000169106 SCV004207280 pathogenic Glycogen storage disease, type V 2023-04-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000169106 SCV004238116 pathogenic Glycogen storage disease, type V 2023-04-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000169106 SCV002092354 pathogenic Glycogen storage disease, type V 2020-09-01 no assertion criteria provided clinical testing

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