ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.296_297GT[5] (p.Leu102fs) (rs796051962)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185904 SCV000238857 pathogenic not provided 2013-10-17 criteria provided, single submitter clinical testing The c.302_303dupGT, the normal sequence with the bases that are duplicated in braces is CGTGTGT[GT]CTAGT. The mutation causes a frameshift starting with codon Leucine 102, changes this amino acid to a Valine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu102ValfsX2. This mutation is predicted to cause loss of normal protein function through protein truncation. Although this mutation has not been previously reported to our knowledge, it is expected to be a pathogenic mutation. The variant is found in ETFDH panel(s).
Invitae RCV000698712 SCV000827392 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2018-03-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu102Valfs*2) in the ETFDH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ETFDH-related disease. ClinVar contains an entry for this variant (Variation ID: 203727). Loss-of-function variants in ETFDH are known to be pathogenic (PMID: 16510302, 23785301). For these reasons, this variant has been classified as Pathogenic.

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