ClinVar Miner

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

dbSNP: rs2153916498
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Total submissions: 2
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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.
Invitae RCV003772340 SCV004568477 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2023-04-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1338502). This variant has not been reported in the literature in individuals affected with MPL-related conditions. This variant is not present in population databases (gnomAD no frequency). 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).

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