ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.173C>T (p.Ala58Val)

gnomAD frequency: 0.00005  dbSNP: rs6087
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003153643 SCV000553463 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481475 SCV002791532 uncertain significance Congenital amegakaryocytic thrombocytopenia; Primary myelofibrosis; Thrombocythemia 2 2021-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272210 SCV001453968 uncertain significance Congenital amegakaryocytic thrombocytopenia 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004735544 SCV005352458 uncertain significance MPL-related disorder 2024-03-24 no assertion criteria provided clinical testing The MPL c.173C>T variant is predicted to result in the amino acid substitution p.Ala58Val. To our knowledge, this variant has not been reported in the literature as a germline variant. This variant is reported in 0.15% of alleles in individuals of East Asian descent in gnomAD which may be too frequent for an unreported disease-causing variant. This variant has conflicting interpretation in ClinVar ranging from uncertain to likely benign (https://preview.ncbi.nlm.nih.gov/clinvar/variation/412015/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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