ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.1112del (p.Asn371fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468331 SCV004199802 likely pathogenic Mitochondrial trifunctional protein deficiency 2023-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003468331 SCV005803393 pathogenic Mitochondrial trifunctional protein deficiency 2024-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn371Metfs*84) in the HADHB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 104 amino acid(s) of the HADHB protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HADHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 2675993). 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). 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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