Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001238420 | SCV001411228 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2019-09-25 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed homozygous in an individual affected with Walker-Warburg syndrome (PMID: 28556411). This variant is also known as c.1241+3delAGTG in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 12 of the POMT1 gene. It does not directly change the encoded amino acid sequence of the POMT1 protein, but it affects a nucleotide within the consensus splice site of the intron. |
Pathology and Clinical Laboratory Medicine, |
RCV000984963 | SCV002073856 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | criteria provided, single submitter | clinical testing | ||
Center for Genomic Medicine, |
RCV000984963 | SCV004810089 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2024-04-04 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000984963 | SCV001132880 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2019-01-29 | no assertion criteria provided | clinical testing |