ClinVar Miner

Submissions for variant NM_030957.4(ADAMTS10):c.698G>A (p.Arg233Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute RCV003307354 SCV004009552 likely pathogenic Weill-Marchesani syndrome 1 2023-06-29 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV003307354 SCV005045071 uncertain significance Weill-Marchesani syndrome 1 2024-02-18 criteria provided, single submitter clinical testing The ADAMTS10 c.698G>A (p.Arg233Gln) variant, to our knowledge, has not been reported in the medical literature but has been reported in the ClinVar database as a germline likely pathogenic variant for Weill-Marchesani syndrome by one submitter. This variant is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors are uncertain as to the impact of this variant on ADAMTS10 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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