ClinVar Miner

Submissions for variant NC_000002.11:g.(?_26512766)_(26512821_?)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 RCV003122144 SCV003790828 uncertain significance Mitochondrial trifunctional protein deficiency 2022-08-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 16 of the HADHB gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. A similar copy number variant has been observed in individual(s) with clinical features of HADHB-related conditions (PMID: 34578803). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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