ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1141G>A (p.Val381Met)

gnomAD frequency: 0.00004  dbSNP: rs764067083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209662 SCV001381107 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-10-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812253 SCV002049554 uncertain significance not provided 2021-10-08 criteria provided, single submitter clinical testing The HADHA c.1141G>A; p.Val381Met variant (rs764067083), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 940137). This variant is only observed on four alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The valine at codon 381 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.477). Due to limited information, the clinical significance of the p.Val381Met variant is uncertain at this time.
Mayo Clinic Laboratories, Mayo Clinic RCV001812253 SCV002541799 uncertain significance not provided 2021-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836150 SCV002076512 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-02-23 no assertion criteria provided clinical testing

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