ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.311T>C (p.Phe104Ser)

gnomAD frequency: 0.00001  dbSNP: rs1196161699
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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 RCV000809390 SCV000949540 likely pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2021-02-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change impairs thrombopoietin binding and receptor activation (PMID: 20188141, 24438083, 25538044). This variant has been observed in combination with another MPL variant in an individual affected with congenital amegakaryocytic thrombocytopenia (CAMT) (PMID: 16470591). This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 104 of the MPL protein (p.Phe104Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine.

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