ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.51dup (p.Ala18fs) (rs796051964)

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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 RCV000185906 SCV000227338 pathogenic not provided 2014-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000185906 SCV000238859 pathogenic not provided 2017-05-12 criteria provided, single submitter clinical testing The c.51dupT, the normal sequence with the base that is duplicated in braces is: TTCA{T}GCCT. The c.51dupT variant in the ETFDH gene has been reported previously in association with glutaric aciduria type II (GAII) in 2 unrelated patients with ETF:ubiquinone oxidoreductase (ETF:QO) deficiency (Goodman et al., 2002). The c.51dupT variant causes a frameshift starting with codon Alanine 18, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ala18CysfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.51dupT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.51dupT as a pathogenic variant.
Invitae RCV000175781 SCV000631946 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2019-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala18Cysfs*5) in the ETFDH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773961946, ExAC 0.02%). This variant has been reported in the literature in combination with other ETFDH variants in patients affected with ETFDH-related diseases (PMID: 12359134, 17584774, 12815589). 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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