Submissions for variant NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)

gnomAD frequency: 0.00034  dbSNP: rs147219158

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000185892	SCV000238844	uncertain significance	not provided	2017-09-01	criteria provided, single submitter	clinical testing	p.Gly191Asp (GGT>GAT): c.572 G>A in exon 5 of the ETFDH gene (NM_004453.2)A variant of unknown significance has been identified in the ETFDH gene. The G191D variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The G191D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Invitae	RCV001079922	SCV001048580	likely benign	Multiple acyl-CoA dehydrogenase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001079922	SCV001310582	uncertain significance	Multiple acyl-CoA dehydrogenase deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic	RCV000185892	SCV001715845	uncertain significance	not provided	2020-12-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937656	SCV004747770	likely benign	ETFDH-related condition	2019-09-17	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).
Genetics and Genomics Program, Sidra Medicine	RCV001199401	SCV001134952	likely pathogenic	Hypertrophic cardiomyopathy		no assertion criteria provided	research