ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.92T>C (p.Leu31Pro)

dbSNP: rs878854771
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228735 SCV000288886 uncertain significance Congenital amegakaryocytic thrombocytopenia; Thrombocythemia 1 2016-01-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 31 of the MPL protein (p.Leu31Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MPL-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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