Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV000785906 | SCV000924482 | likely pathogenic | Joubert syndrome 14 | 2018-06-15 | criteria provided, single submitter | research | The homozygous p.Gln140Ter variant was identified by our study in one individual with Joubert syndrome. This variant has been identified in <0.01% (1/33566) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Loss of function of the TMEM237 gene is an established disease mechanism in autosomal recessive Joubert syndrome, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic. |
Hadassah Hebrew University Medical Center | RCV000785906 | SCV001142763 | likely pathogenic | Joubert syndrome 14 | 2019-06-20 | criteria provided, single submitter | clinical testing |