ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs)

gnomAD frequency: 0.00001  dbSNP: rs750080547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377990 SCV001575457 pathogenic Glycogen storage disease, type V 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu797Valfs*18) in the PYGM gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acid(s) of the PYGM protein. This variant is present in population databases (rs750080547, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with McArdle disease (PMID: 19472443). ClinVar contains an entry for this variant (Variation ID: 1066872). This variant disrupts a region of the PYGM protein in which other variant(s) (p.Trp798Arg) have been determined to be pathogenic (PMID: 17630210, 17994553, 19251976, 21802952, 22250184). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001377990 SCV004207218 pathogenic Glycogen storage disease, type V 2024-01-25 criteria provided, single submitter clinical testing

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