ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)

gnomAD frequency: 0.00001  dbSNP: rs796051971
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185935 SCV000238891 pathogenic not provided 2013-10-10 criteria provided, single submitter clinical testing The c.1916_1919dupATCA the normal sequence with the bases that are duplicated in braces is: ATCT{ATCA}GGAG. This mutation in the HADHA gene causes a frameshift starting with codon Glutamic Acid 641, changes this amino acid to a Serine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Glu641SerfsX12. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, it is expected to be a pathogenic mutation. The variant is found in HADHA panel(s).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252030 SCV002523659 pathogenic See cases 2020-04-23 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PS4, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV002513955 SCV003025000 pathogenic Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2024-01-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu641Serfs*12) 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 (rs796051971, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with HADHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 203745). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004567385 SCV005059663 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016529 SCV005651673 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency 1 2024-06-24 criteria provided, single submitter clinical testing

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