Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000415826 | SCV000238825 | likely benign | not provided | 2021-05-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000415826 | SCV000493238 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | ETFB: BP4, BS2 |
ARUP Laboratories, |
RCV000415826 | SCV000885373 | uncertain significance | not provided | 2018-05-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000814061 | SCV000954457 | uncertain significance | Multiple acyl-CoA dehydrogenase deficiency | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 93 of the ETFB protein (p.Pro93Leu). This variant is present in population databases (rs139519507, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ETFB-related conditions. ClinVar contains an entry for this variant (Variation ID: 203696). 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 ETFB 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 | RCV002517821 | SCV003679812 | uncertain significance | Inborn genetic diseases | 2022-05-27 | criteria provided, single submitter | clinical testing | The c.278C>T (p.P93L) alteration is located in exon 3 (coding exon 3) of the ETFB gene. This alteration results from a C to T substitution at nucleotide position 278, causing the proline (P) at amino acid position 93 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV000415826 | SCV004225436 | uncertain significance | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | BP4 |