ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1183A>G (p.Asn395Asp)

gnomAD frequency: 0.00001  dbSNP: rs938821234
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001908157 SCV002142431 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 395 of the MPL protein (p.Asn395Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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