ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)

gnomAD frequency: 0.00001  dbSNP: rs1355966040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001384719 SCV001584341 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-03-03 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: 1072100). This variant has not been reported in the literature in individuals affected with MPL-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln348*) 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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