Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001785089 | SCV002022432 | pathogenic | not provided | 2020-03-31 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV003389340 | SCV004101470 | likely pathogenic | Spinal muscular atrophy with congenital bone fractures 1 | criteria provided, single submitter | clinical testing | The frameshift deletion p.Q113Kfs*30 in TRIP4 (NM_016213.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Q113Kfs*30 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation caused a frameshift mutation. The frame shifted sequence continues 30 residues until a stop codon is reached. The p.Q113Kfs*30 variant is a loss of function variant in the gene TRIP4, which is intolerant of Loss of Function variants. For these reasons, this variant has been classified as Likely Pathogenic. The observed variant was also detected in the spouse. |