Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092657 | SCV001249268 | likely pathogenic | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001092657 | SCV003924640 | pathogenic | not provided | 2023-01-04 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 77 amino acids are replaced with 66 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Unpublished functional studies using patient fibroblasts carrying c.1129del in trans with c.974+115dup suggest that ATG9A transport and therefore AP-4 function is disrupted in these cells (External communication with Ebrahimi-Fakhari Lab - Boston Childrens Hospital, Harvard Medical School); Has not been previously published as pathogenic or benign to our knowledge |