Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001350011 | SCV001544383 | uncertain significance | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 178 of the TMEM70 protein (p.Thr178Ser). This variant is present in population databases (rs552453782, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TMEM70-related conditions. ClinVar contains an entry for this variant (Variation ID: 1045574). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 | RCV004036605 | SCV004967298 | uncertain significance | Inborn genetic diseases | 2023-12-15 | criteria provided, single submitter | clinical testing | The c.533C>G (p.T178S) alteration is located in exon 3 (coding exon 3) of the TMEM70 gene. This alteration results from a C to G substitution at nucleotide position 533, causing the threonine (T) at amino acid position 178 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |