ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.573+8dup

gnomAD frequency: 0.00584  dbSNP: rs112196218
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185924 SCV000238879 benign not specified 2014-10-08 criteria provided, single submitter clinical testing The variant is found in FAO-MET,UCD-MET panel(s).
Invitae RCV000645256 SCV000766998 benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000185924 SCV000917470 benign not specified 2018-07-12 criteria provided, single submitter clinical testing Variant summary: HADHA c.573+8dupT alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant changes to splicing, however, these predictions have not been assessed by functional studies. The variant allele was found at a frequency of 0.0026 in 276958 control chromosomes in the gnomAD database, including 8 homozygotes. The observed variant frequency is approximately 1.36 fold above the estimated maximal expected allele frequency for a pathogenic variant in HADHA causing Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency phenotype (0.0019), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.573+8dupT in individuals affected with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No 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 benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736628 SCV004562046 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276346 SCV001462518 benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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