ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1162G>T (p.Ala388Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004783222 SCV005394450 uncertain significance not specified 2024-09-13 criteria provided, single submitter clinical testing Variant summary: MPL c.1162G>T (p.Ala388Ser) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251462 control chromosomes. c.1162G>T has been reported in the literature in individuals affected with Congenital Amegakaryocytic Thrombocytopenia (Tamary_2010). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 20435624). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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