ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003048809 SCV003354399 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-06-01 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ETFA mRNA. The next in-frame methionine is located at codon 261. 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. This variant disrupts a region of the ETFA protein in which other variant(s) (p.Val168Phe) have been observed in individuals with ETFA-related conditions (PMID: 20736750). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Disruption of the initiator codon has been observed in individual(s) with glutaric acidemia type II (PMID: 33768790). This variant is not present in population databases (gnomAD no frequency).

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