Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255207 | SCV000322258 | pathogenic | not provided | 2017-08-04 | criteria provided, single submitter | clinical testing | The c.636 C>T variant in the POMGNT1 gene has been reported previously in homozygous and compound heterozygous patients with POMGNT1-related disorders (Bouchet et al., 2007; Oliveira et al., 2008; Valencia et al., 2013). Functional studies indicate that c.636 C>T leads to skipping of exon 7, which results in a frameshift and reduced levels of POMGNT1 protein as compared to controls (Oliveira et al., 2008). The c.636 C>T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating is not a common benign variant in these populations. |
Invitae | RCV000695969 | SCV000824510 | pathogenic | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 | 2019-12-23 | criteria provided, single submitter | clinical testing | This sequence change affects codon 212 of the POMGNT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POMGNT1 protein. This variant is present in population databases (rs190057175, ExAC 0.003%). This variant has been reported as homozygous or compound heterozygous in many individuals affected with lissencephaly or congenital muscular dystrophy (PMID: 17559086, 28424332, 18330676, 22323514, 23326386). ClinVar contains an entry for this variant (Variation ID: 265399). Experimental studies have shown that this silent change causes exon 7 skipping, leading to a frameshift and introduction of a premature termination codon (PMID: 17559086, 28424332, 18330676). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV000255207 | SCV001249300 | pathogenic | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000984296 | SCV001132467 | likely pathogenic | Muscle eye brain disease | 2014-01-23 | no assertion criteria provided | clinical testing | |
Counsyl | RCV000984297 | SCV001132468 | likely pathogenic | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 | 2014-01-23 | no assertion criteria provided | clinical testing | |
Counsyl | RCV000984298 | SCV001132469 | likely pathogenic | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 2014-01-23 | no assertion criteria provided | clinical testing | |
Counsyl | RCV000984299 | SCV001132470 | likely pathogenic | Retinitis pigmentosa 76 | 2014-01-23 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000984296 | SCV001461201 | pathogenic | Muscle eye brain disease | 2020-09-16 | no assertion criteria provided | clinical testing |