ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.408dup (p.Ser137fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004730037 SCV005338592 likely pathogenic MPL-related disorder 2024-08-07 no assertion criteria provided clinical testing The MPL c.408dupC variant is predicted to result in a frameshift and premature protein termination (p.Ser137Glnfs*27). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in MPL are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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