ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.313_316del (p.Phe105fs)

dbSNP: rs2153916498
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817873 SCV002067283 pathogenic not provided 2019-03-22 criteria provided, single submitter clinical testing DNA sequence analysis of the PARN gene demonstrated a single base pair duplication in exon 12, c.811dup. This pathogenic sequence change results in an amino acid frameshift and creates a premature stop codon 1 amino acid downstream of the mutation, p.Ser271Phefs*2. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated PARN protein with potentially abnormal function.
Labcorp Genetics (formerly Invitae), Labcorp RCV003772340 SCV004568477 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe105Argfs*6) in the MPL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1338502). For these reasons, this variant has been classified as Pathogenic.

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.