Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, |
RCV003307354 | SCV004009552 | likely pathogenic | Weill-Marchesani syndrome 1 | 2023-06-29 | criteria provided, single submitter | clinical testing | |
Clinical Genomics Laboratory, |
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. |