ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.744_747dup (p.Asn250fs)

dbSNP: rs587778518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514646 SCV003244602 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2023-08-28 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: 134831). This variant has not been reported in the literature in individuals affected with MPL-related conditions. This variant is present in population databases (rs587778518, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Asn250Trpfs*13) 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).
ITMI RCV000121546 SCV000085740 not provided not specified 2013-09-19 no assertion provided reference population

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