ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1744C>G (p.Leu582Val)

dbSNP: rs2153920065
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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 RCV001980981 SCV002282827 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-08-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 1492471). This variant has not been reported in the literature in individuals affected with MPL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 582 of the MPL protein (p.Leu582Val).

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