ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.731C>A (p.Ser244Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310155 SCV002602136 likely pathogenic Congenital amegakaryocytic thrombocytopenia 2021-12-17 criteria provided, single submitter clinical testing NM_005373.2(MPL):c.731C>A(S244*) is expected to be pathogenic in the context of congenital amegakaryocytic thrombocytopenia. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MPL, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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