ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)

gnomAD frequency: 0.00079  dbSNP: rs140169311
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726964 SCV000238814 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000320514 SCV000393970 uncertain significance 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, 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.
Eurofins Ntd Llc (ga) RCV000726964 SCV000704552 uncertain significance not provided 2017-01-10 criteria provided, single submitter clinical testing
Invitae RCV000320514 SCV001027709 likely benign Multiple acyl-CoA dehydrogenase deficiency 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917703 SCV004734703 likely benign ETFA-related disorder 2022-11-14 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. RCV000320514 SCV001461568 likely benign Multiple acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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