ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)

dbSNP: rs1565531128
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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 RCV001388132 SCV001589003 pathogenic Glycogen storage disease, type V 2023-06-14 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Val788Alafs*14) in the PYGM gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 amino acid(s) of the PYGM protein. This variant has not been reported in the literature in individuals affected with PYGM-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PYGM protein in which other variant(s) (p.Glu797Valfs*18) have been determined to be pathogenic (PMID: 17630210, 17994553, 19251976, 19472443, 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. ClinVar contains an entry for this variant (Variation ID: 1074725).
Baylor Genetics RCV001388132 SCV004207256 likely pathogenic Glycogen storage disease, type V 2023-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001388132 SCV005684054 likely pathogenic Glycogen storage disease, type V 2024-05-06 criteria provided, single submitter clinical testing

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