ClinVar Miner

Submissions for variant NM_139025.4(ADAMTS13):c.415-1G>A (rs1554785114)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826095 SCV000967597 likely pathogenic Upshaw-Schulman syndrome 2018-02-20 criteria provided, single submitter clinical testing The c.415-1G>A variant in ADAMTS13 has not been previously reported in individua ls with Familial thrombotic thrombocytopenic purpura and was absent from large p opulation studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Complete loss of activity of ADAMTS13 is associat ed with thrombotic thrombocytopenic purpura. In summary, although additional stu dies are required to fully establish its clinical significance, the c.415-1G>A v ariant is likely pathogenic for Familial thrombotic thrombocytopenic purpura in an autosomal recessive manner. ACMG/AMP Criteria applied: PVS1_Strong; PM2.

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