Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001340851 | SCV001534684 | uncertain significance | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 2022-04-16 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 197 of the TMEM70 protein (p.Gln197Lys). This variant is present in population databases (rs775211044, gnomAD 0.01%). 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: 1037663). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV002546915 | SCV003648605 | uncertain significance | Inborn genetic diseases | 2022-09-22 | criteria provided, single submitter | clinical testing | The c.589C>A (p.Q197K) alteration is located in exon 3 (coding exon 3) of the TMEM70 gene. This alteration results from a C to A substitution at nucleotide position 589, causing the glutamine (Q) at amino acid position 197 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |