ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu)

gnomAD frequency: 0.00014  dbSNP: rs145422395
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587832 SCV000695939 uncertain significance not provided 2017-08-09 criteria provided, single submitter clinical testing Variant summary: The HADHA c.1465A>G (p.Lys489Glu) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 21/121388 control chromosomes at a frequency of 0.000173, which does not exceed the estimated maximal expected allele frequency of a pathogenic HADHA variant (0.0019365). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Labcorp Genetics (formerly Invitae), Labcorp RCV000802986 SCV000942838 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000587832 SCV001804449 uncertain significance not provided 2020-02-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Mayo Clinic Laboratories, Mayo Clinic RCV000587832 SCV004224853 uncertain significance not provided 2023-05-12 criteria provided, single submitter clinical testing BS1
Fulgent Genetics, Fulgent Genetics RCV005027695 SCV005655885 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency 1 2024-03-11 criteria provided, single submitter clinical testing

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