Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001914960 | SCV002146662 | uncertain significance | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 154 of the TMEM70 protein (p.Ile154Phe). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 1379885). 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 not expected to disrupt TMEM70 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. |
| Ambry Genetics | RCV004681287 | SCV005176628 | uncertain significance | Inborn genetic diseases | 2024-06-07 | criteria provided, single submitter | clinical testing | The c.460A>T (p.I154F) alteration is located in exon 3 (coding exon 3) of the TMEM70 gene. This alteration results from a A to T substitution at nucleotide position 460, causing the isoleucine (I) at amino acid position 154 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |