Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001063256 | SCV001228094 | pathogenic | Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 2019-01-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp219*) in the PARN gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PARN are known to be pathogenic (PMID: 9736620, 25848748, 26810774). This variant has not been reported in the literature in individuals with PARN-related conditions. This variant is not present in population databases (ExAC no frequency). |