ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) (rs773668457)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699705 SCV000828428 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2019-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg41*) in the ETFDH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773668457, ExAC 0.001%). This variant has been reported to be compound heterozygous with pathogenic variants in two individuals with glutaric acidemia type II (PMID: 12359134, 24190796). 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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