ClinVar Miner

Submissions for variant NM_004279.3(PMPCB):c.1078dup (p.Thr360fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337875 SCV004048257 likely pathogenic Multiple mitochondrial dysfunctions syndrome 6 criteria provided, single submitter clinical testing The frameshift variant c.1078dup (p.Thr360AsnfsTer11) in PMPCB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr360AsnfsTer11 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Threonine 360, changes this amino acid to Asparagine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Thr360AsnfsTer11. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of another reportable variant, the molecular diagnosis is not confirmed.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.