Submissions for variant NM_000182.5(HADHA):c.652G>C (p.Val218Leu)

gnomAD frequency: 0.00050  dbSNP: rs71441018

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000691764	SCV000819554	likely benign	Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	2024-01-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000691764	SCV000896992	uncertain significance	Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	2018-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000859471	SCV001152189	uncertain significance	not provided	2024-07-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001142927	SCV001303421	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	RCV001142928	SCV001303422	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.
Genome-Nilou Lab	RCV001142927	SCV001653343	uncertain significance	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	2021-05-18	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001142927	SCV001736833	uncertain significance	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000859471	SCV001788912	uncertain significance	not provided	2021-04-20	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported with a high frequency of heterozygous individuals in the Silesian region of Poland in published literature (Nedoszytko et al., 2017); This variant is associated with the following publications: (PMID: 29095929)
Revvity Omics, Revvity	RCV000859471	SCV003810644	uncertain significance	not provided	2022-05-30	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000859471	SCV004224855	uncertain significance	not provided	2022-01-10	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003992371	SCV004809496	uncertain significance	Mitochondrial trifunctional protein deficiency 1	2024-04-04	criteria provided, single submitter	clinical testing