ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.988A>T (p.Ile330Phe)

dbSNP: rs1647056598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048211 SCV001212203 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 330 of the MPL protein (p.Ile330Phe). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MPL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001272214 SCV001453981 uncertain significance Congenital amegakaryocytic thrombocytopenia 2020-09-16 no assertion criteria provided clinical testing

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