ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) (rs377686388)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723385 SCV000233073 pathogenic not provided 2014-12-10 criteria provided, single submitter clinical testing
Invitae RCV000180601 SCV000756265 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 334 of the ETFDH protein (p.Leu334Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs377686388, ExAC 0.001%). This variant has been reported as homozygous or in combination with another ETFDH variant in several individuals affected with multiple acyl-CoA dehydrogenase deficiency (PMID: 12359134, 17584774). ClinVar contains an entry for this variant (Variation ID: 199094). Experimental studies have shown that this missense change abrogates ETFDH activity (PMID: 22611163). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000180601 SCV000893658 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing

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