Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Neuropsychiatry & Development Lab, |
RCV001254942 | SCV001167015 | likely pathogenic | Intellectual disability; Cerebellar atrophy | 2020-03-03 | no assertion criteria provided | research | The NM_020905.3:c.114dup/ Gly39Argfs*97 biallelic variant in RDH14 is reported segregating in two affected members of a single large family from Pakistan (Pastore et al, submitted). The variant is predicted to lead to premature truncation of the protein with loss of function, along with nonsense-mediated mRNA decay. No corroborative evidence from other families, or from animal models is available as yet, and thus there remain reservations as to the pathogenicity. |