Submissions for variant NM_000182.5(HADHA):c.1212G>C (p.Val404=)

gnomAD frequency: 0.00058  dbSNP: rs116396996

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000373682	SCV000429517	uncertain significance	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV000281388	SCV000429518	uncertain significance	Mitochondrial trifunctional protein deficiency	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000728811	SCV000526892	likely benign	not provided	2021-10-23	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000728811	SCV000856427	uncertain significance	not provided	2017-08-16	criteria provided, single submitter	clinical testing
Invitae	RCV001079829	SCV001012348	likely benign	Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000728811	SCV001152187	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	HADHA: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003940366	SCV004755832	likely benign	HADHA-related condition	2019-12-19	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV000373682	SCV001452964	likely benign	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	2020-05-02	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000728811	SCV001957605	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000728811	SCV001973411	likely benign	not provided		no assertion criteria provided	clinical testing