Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001546229 | SCV001765716 | pathogenic | not provided | 2023-03-08 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002570672 | SCV003545222 | pathogenic | Inborn genetic diseases | 2021-09-20 | criteria provided, single submitter | clinical testing | The c.1149_1150delCT (p.F384Sfs*70) alteration, located in exon 4 (coding exon 2) of the QRICH1 gene, consists of a deletion of 2 nucleotides from position 1149 to 1150, causing a translational frameshift with a predicted alternate stop codon after 70 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic. |
Center for Genomic Medicine, |
RCV001548773 | SCV004806707 | uncertain significance | Ververi-Brady syndrome | 2024-03-26 | criteria provided, single submitter | clinical testing | |
Gene Discovery Core- |
RCV001548773 | SCV001768738 | pathogenic | Ververi-Brady syndrome | 2020-02-14 | no assertion criteria provided | research | This variant is interpreted as Pathogenic for Ververi-Brady syndrome; Autosomal Dominant. PVS1- Null variant (nonsense, frameshift, canonical splice sites, initiation codon, single or multiexon deletion) in a gene where LOF is a known mechanism of disease. PS2- De novo (both maternity and paternity confirmed) in a patient with the disease and no family history. PM2- Absent from controls (gnomad). PP3- Multiple lines of computational evidence support a deleterious effect on the gene or gene product. |