Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001245902 | SCV001419226 | uncertain significance | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2023-07-30 | criteria provided, single submitter | clinical testing | Variants that disrupt 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. This sequence change affects codon 589 of the PIGN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PIGN protein. This variant also falls at the last nucleotide of exon 19, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIGN-related conditions. ClinVar contains an entry for this variant (Variation ID: 970343). 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. |
| Gene |
RCV002246232 | SCV002520254 | likely pathogenic | not provided | 2021-11-12 | criteria provided, single submitter | clinical testing | Internal targeted RNA studies in blood from a patient and their mother and father referred for testing at GeneDx demonstrate this variant alters RNA splicing by skipping of exon 19 which is predicted to lead to deletion of 31 amino acid residues.; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |