ClinVar Miner

Submissions for variant NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)

gnomAD frequency: 0.00026  dbSNP: rs139519507
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000415826 SCV000238825 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000415826 SCV000493238 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ETFB: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, 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, Mayo Clinic RCV000415826 SCV004225436 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing BP4

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