Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000318622 | SCV000429559 | uncertain significance | Mitochondrial trifunctional protein deficiency | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Pathology and Clinical Laboratory Medicine, |
RCV000318622 | SCV002073853 | likely pathogenic | Mitochondrial trifunctional protein deficiency | criteria provided, single submitter | clinical testing | ||
| MGZ Medical Genetics Center | RCV000318622 | SCV002579524 | uncertain significance | Mitochondrial trifunctional protein deficiency | 2021-11-04 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000318622 | SCV003289340 | uncertain significance | Mitochondrial trifunctional protein deficiency | 2022-04-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 238 of the HADHB protein (p.Arg238Trp). This variant is present in population databases (rs764006338, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of HADHB-related conditions (PMID: 30682426, 31130284). This variant is also known as c.667C>T (p.Arg223Trp). ClinVar contains an entry for this variant (Variation ID: 335406). 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 C65"). 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. |
| Center for Genomic Medicine, |
RCV003987514 | SCV004804737 | pathogenic | Mitochondrial trifunctional protein deficiency 2 | 2024-03-17 | criteria provided, single submitter | research |