Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV000201528 | SCV000256520 | pathogenic | Joubert syndrome 6 | 2015-02-23 | criteria provided, single submitter | research | |
Gene |
RCV000419395 | SCV000521232 | likely pathogenic | not provided | 2022-06-30 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19574260, 26092869, 19058225, 20232449, 19466712, 28838911, 32000717) |
Invitae | RCV000636949 | SCV000758397 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-09-28 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 372 of the TMEM67 protein (p.Thr372Lys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with Joubert syndrome (PMID: 12368986, 19058225, 19574260, 20232449, 25920555, 26092869). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 217726). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TMEM67 protein function. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002478718 | SCV000894454 | pathogenic | COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 | 2021-10-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000419395 | SCV003814115 | likely pathogenic | not provided | 2022-06-29 | criteria provided, single submitter | clinical testing |