Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Lab, |
RCV000498994 | SCV000590833 | pathogenic | Glycogen storage disease, type V | 2016-01-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000498994 | SCV001198745 | pathogenic | Glycogen storage disease, type V | 2023-07-25 | 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: 433147). This premature translational stop signal has been observed in individuals with glycogen storage disease type V (PMID: 17324573; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg650*) 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). |
Neuberg Centre For Genomic Medicine, |
RCV000498994 | SCV002073185 | pathogenic | Glycogen storage disease, type V | criteria provided, single submitter | clinical testing | The stop gained p.R650* in PYGM (NM_005609.4) has been previously reported in affected individuals (Aquaron R et al,Bruno C et al). It has been submitted to ClinVar as Pathogenic. The p.R650* variant is observed in 1/18,392 (0.0054%) alleles from individuals of East Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function mutations have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. | |
Baylor Genetics | RCV000498994 | SCV004207252 | pathogenic | Glycogen storage disease, type V | 2024-03-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000498994 | SCV005684096 | pathogenic | Glycogen storage disease, type V | 2024-05-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000498994 | SCV001461272 | pathogenic | Glycogen storage disease, type V | 2020-09-16 | no assertion criteria provided | clinical testing | |
Gene Friend Way, |
RCV003324712 | SCV004013896 | likely pathogenic | See cases | 2023-07-28 | no assertion criteria provided | clinical testing | This sequence change creates a premature translational stop signal (p.Arg650*) in the PYGM gene. It is expected to result in an absent or disrupted protein product. This premature translational stop signal has been observed in individuals with glycogen storage disease type V (PMID: 17324573). Recent genetic and functional studies have identified a role of abnormal glycinergic signaling in Autism Spectrum Disorder (ASD) (PMID: 28270747). In our study, a child diagnosed with ASD is the carrier of this mutation and also PRNP (rs1799990). |