Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001031318 | SCV001194624 | likely pathogenic | Glycogen storage disease, type V | 2019-06-29 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Trp798 amino acid residue in PYGM. Another variant that disrupt this residue have been determined to be pathogenic (PMID: 17630210, 17994553, 21802952, 17994553). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been observed in an individual affected with GSD V (Invitae). This variant is a gross deletion of the genomic region encompassing exons 18-20 of the PYGM gene. The 5' boundary is likely confined to intron 17. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. |