Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000262993 | SCV000338567 | uncertain significance | not provided | 2016-01-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000702895 | SCV000831769 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2022-10-18 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 567 of the TMEM67 protein (p.Tyr567Cys). This variant is present in population databases (rs148726767, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TMEM67-related conditions. ClinVar contains an entry for this variant (Variation ID: 285516). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ce |
RCV000262993 | SCV001155457 | uncertain significance | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | TMEM67: PM2, PM3:Supporting |
Gene |
RCV000262993 | SCV003798766 | uncertain significance | not provided | 2022-11-09 | criteria provided, single submitter | clinical testing | Reported as heterozygous in a patient with a phenotype suggestive of autosomal recessive retinitis pigmentosa, though no second variant was identified in the TMEM67 gene (Audo et al., 2012); 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: 22277662) |
Centre de Biologie Pathologie Génétique, |
RCV001252367 | SCV001428122 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |