Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597743 | SCV000700513 | pathogenic | not provided | 2017-03-02 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003465329 | SCV004207238 | likely pathogenic | Glycogen storage disease, type V | 2023-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003465329 | SCV004472411 | pathogenic | Glycogen storage disease, type V | 2023-06-10 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 496892). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn168*) 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). |