ClinVar Miner

Submissions for variant NM_139025.4(ADAMTS13):c.1370C>T (p.Pro457Leu) (rs36220240)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000279550 SCV000478320 likely pathogenic Upshaw-Schulman syndrome 2017-09-05 criteria provided, single submitter clinical testing The ADAMTS13 c.1370C>T (p.Pro457Leu) variant has been reported in at least two studies in which it is found in a compound heterozygous state in two individuals with familial thrombotic thrombocytopenia purpura and in a heterozygous state in an unaffected parent of each individual (Assink et al. 2003; Manea et al. 2007a). The p.Pro457Leu variant was absent from 50 control samples (Assink et al. 2003), but is reported at a frequency of 0.005899 in the European (Finnish) population of the Genome Aggregation Database with one homozygote present in the European (non-Finnish) population. One of the affected individuals was shown to have less than 5% enzyme activity compared to 50% activity seen in the unaffected parent, and in vitro studies showed impaired secretion and very low activity of the secreted variant proteins (Manea et al. 2007a; Manea et al. 2007b). Based on the evidence, the p.Pro457Leu variant is classified as likely pathogenic for familial thrombotic thrombocytopenia purpura. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000886026 SCV001029509 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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