ClinVar Miner

Submissions for variant NC_000015.9:g.(?_76523654)_(76523759_?)del

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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 RCV003119338 SCV003790660 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-03-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 10 of the ETFA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with ETFA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the ETFA protein in which other variant(s) (p.Gln285Leu) have been observed in individuals with ETFA-related conditions (PMID: 30510944). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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.

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