Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003945916 | SCV004764709 | pathogenic | POLR1B-related condition | 2023-12-20 | criteria provided, single submitter | clinical testing | The POLR1B c.3007C>T variant is predicted to result in the amino acid substitution p.Arg1003Cys. This variant has been reported as a recurrent de novo variant in several individual with Treacher Collins syndrome type 4 (Sanchez et al. 2020. PubMed ID: 31649276; Enomoto et al. 2021. PubMed ID: 34012383). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic. |
OMIM | RCV001200057 | SCV001370911 | pathogenic | Treacher Collins syndrome 4 | 2020-07-06 | no assertion criteria provided | literature only | |
Gene |
RCV003319221 | SCV004023292 | not provided | Treacher Collins syndrome | no assertion provided | literature only |