Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000001653 | SCV000414696 | pathogenic | Hydatidiform mole, recurrent, 1 | 2017-04-28 | criteria provided, single submitter | clinical testing | The NLRP7 c.2077C>T (p.Arg693Trp) variant is one of the most common variants found in recurrent hydatidiform mole (RHM). The variant has been reported in at least six studies in which it is found in nine affected individuals, including three in a homozygous state, three in a compound heterozygous state, and three of unknown zygosity (Murdoch et al. 2006; Puechberty et al. 2009; Wang et al. 2009; Messaed et al. 2011; Dixon et al. 2012; Sebire et al. 2013). The p.Arg693Trp variant was absent from 1524 control chromosomes and is reported at a frequency of 0.00302 in the European (Finnish) population of the Exome Aggregation Consortium. Co-immunoprecipitation studies with the p.Arg693Trp variant protein showed reduced dimer formation compared to wild type (Singer et al. 2014). The p.Arg693Trp variant protein was also found to be more potent at activating inflammasome complexes compared to wild type protein (Khare et al. 2012). Based on the collective evidence, the p.Arg693Trp variant is classified as pathogenic for recurrent hydatidiform mole. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
| OMIM | RCV000001653 | SCV000021809 | pathogenic | Hydatidiform mole, recurrent, 1 | 2009-08-01 | no assertion criteria provided | literature only | |
| Unité médicale des maladies autoinflammatoires, |
RCV000001653 | SCV000116106 | not provided | Hydatidiform mole, recurrent, 1 | no assertion provided | not provided |