Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001332912 | SCV001525355 | uncertain significance | Combined oxidative phosphorylation defect type 15 | 2019-05-04 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Labcorp Genetics |
RCV001859303 | SCV002201852 | uncertain significance | not provided | 2022-08-21 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 12 of the MTFMT protein (p.Pro12Thr). This variant is present in population databases (no rsID available, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with MTFMT-related conditions. ClinVar contains an entry for this variant (Variation ID: 1031157). 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. |
Gene |
RCV001859303 | SCV003805401 | uncertain significance | not provided | 2023-02-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV004035753 | SCV005006474 | uncertain significance | Inborn genetic diseases | 2021-10-14 | criteria provided, single submitter | clinical testing | The c.34C>A (p.P12T) alteration is located in exon 1 (coding exon 1) of the MTFMT gene. This alteration results from a C to A substitution at nucleotide position 34, causing the proline (P) at amino acid position 12 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |