Submissions for variant NM_000182.5(HADHA):c.1844dup (p.Asn615fs)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Myriad Genetics, Inc.	RCV002309196	SCV002603005	likely pathogenic	Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	2022-03-29	criteria provided, single submitter	clinical testing	NM_000182.4(HADHA):c.1844dupA(N615Kfs*17) is expected to be pathogenic in the context of HADHA-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in HADHA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003235703	SCV003934344	pathogenic	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	2023-05-11	criteria provided, single submitter	clinical testing	Variant summary: HADHA c.1844dupA (p.Asn615LysfsX17) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251414 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1844dupA in individuals affected with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics	RCV003235703	SCV004191770	likely pathogenic	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	2023-07-15	criteria provided, single submitter	clinical testing