Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000029181 | SCV000958962 | uncertain significance | TMEM165-congenital disorder of glycosylation | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002251428 | SCV002522096 | likely pathogenic | not provided | 2021-11-24 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Observed in either the homozygous or heterozygous state in an individual with CDG-II (Ashikov et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate reduced calcium/manganese transport capacity, but cellular localization and glycosylation capability similar to wild-type in vitro (Rosnoblet et al., 2013; Stribny et al., 2020); This variant is associated with the following publications: (PMID: 27401145, 23575229, 23569283, 32599014, 22683087, 29878199, 32047108) |
OMIM | RCV000029181 | SCV000051826 | pathogenic | TMEM165-congenital disorder of glycosylation | 2012-07-13 | no assertion criteria provided | literature only |