Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002653185 | SCV002972019 | uncertain significance | Familial aplasia of the vermis | 2022-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 8 of the TMEM216 protein (p.Met8Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TMEM216-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
| Ambry Genetics | RCV004966010 | SCV005516451 | uncertain significance | Inborn genetic diseases | 2024-10-08 | criteria provided, single submitter | clinical testing | The c.22A>G (p.M8V) alteration is located in exon 1 (coding exon 1) of the TMEM216 gene. This alteration results from a A to G substitution at nucleotide position 22, causing the methionine (M) at amino acid position 8 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005050617 | SCV005683833 | uncertain significance | Joubert syndrome 2; Meckel syndrome, type 2 | 2024-06-06 | criteria provided, single submitter | clinical testing |