Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001390610 | SCV001592399 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2023-02-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg63*) in the POMGNT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMGNT1 are known to be pathogenic (PMID: 19299310, 20816175, 21447391, 26908613, 27391550). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with muscle-eye-brain disease (PMID: 12588800, 26908613). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3994). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001847575 | SCV004205997 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 2023-03-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001847575 | SCV000024367 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 2009-05-26 | no assertion criteria provided | literature only | |
OMIM | RCV000240891 | SCV000299361 | pathogenic | Retinitis pigmentosa 76 | 2016-09-20 | no assertion criteria provided | literature only | |
Diagnostic Laboratory, |
RCV001529546 | SCV001743169 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001529546 | SCV001973970 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |