Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000177002 | SCV000228806 | pathogenic | not provided | 2013-04-09 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000177003 | SCV000695941 | pathogenic | Mitochondrial trifunctional protein deficiency | 2021-04-10 | criteria provided, single submitter | clinical testing | Variant summary: HADHA c.157C>T (p.Arg53X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 8e-06 in 251392 control chromosomes. c.157C>T has been reported in the literature in individuals affected with Mitochondrial Trifunctional Protein Deficiency (example, Sperk_2010, Bo_2017). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Invitae | RCV001854375 | SCV002230910 | pathogenic | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2023-07-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg53*) in the HADHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HADHA are known to be pathogenic (PMID: 7738175, 21103935, 21549624, 22459206). This variant is present in population databases (rs147103714, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with HADHA-related conditions (PMID: 20659813). ClinVar contains an entry for this variant (Variation ID: 92594). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003466972 | SCV004191787 | pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2023-03-19 | criteria provided, single submitter | clinical testing |