ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.126T>G (p.Ile42Met)

gnomAD frequency: 0.00001  dbSNP: rs1264862903
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972000 SCV002202459 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 42 of the HADH protein (p.Ile42Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HADH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1431173). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt HADH protein function with a positive predictive value of 80%. 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.
Ambry Genetics RCV003264292 SCV003967488 uncertain significance Inborn genetic diseases 2023-04-18 criteria provided, single submitter clinical testing The c.126T>G (p.I42M) alteration is located in exon 1 (coding exon 1) of the HADH gene. This alteration results from a T to G substitution at nucleotide position 126, causing the isoleucine (I) at amino acid position 42 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.