ClinVar Miner

Submissions for variant NC_000002.11:g.(?_26506965)_(26508459_?)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 RCV004582621 SCV005063236 pathogenic Mitochondrial trifunctional protein deficiency 2023-08-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 13-15 of the HADHB gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. This variant has not been reported in the literature in individuals affected with HADHB-related conditions. This variant disrupts a region of the HADHB protein in which other variant(s) (p.Asn389Asp) have been determined to be pathogenic (PMID: 17143551, 21549624, 24664533). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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