Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Charité Universitätsmedizin Berlin, |
RCV001268968 | SCV001448204 | likely pathogenic | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 2020-07-01 | criteria provided, single submitter | clinical testing | The pathogenic homozygous missense variant identified led the exchange of an evolutionary conserved proline for an arginine. This variant was absent in the gnomAD database and in ClinVar. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics the evidence of pathogenicity of the c.737G>C, p.(Arg246Pro) variant is moderate . |