ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1590A>G (p.Glu530=)

gnomAD frequency: 0.00114  dbSNP: rs143015234
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000370319 SCV000448160 likely benign Multiple acyl-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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000676848 SCV000729319 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Invitae RCV000370319 SCV001092547 benign Multiple acyl-CoA dehydrogenase deficiency 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957801 SCV004768621 likely benign ETFDH-related disorder 2020-01-13 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000676848 SCV000802659 likely benign not provided 2017-09-15 no assertion criteria provided clinical testing
Natera, Inc. RCV000370319 SCV001457033 likely benign Multiple acyl-CoA dehydrogenase deficiency 2020-04-21 no assertion criteria provided clinical testing

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