ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.265_266del (p.Gln89fs)

dbSNP: rs1773880008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248026 SCV001421485 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln89Valfs*6) in the ETFDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ETFDH are known to be pathogenic (PMID: 16510302, 23785301). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with multiple acyl-CoA dehydrogenase deficiency (PMID: 30587156). ClinVar contains an entry for this variant (Variation ID: 972080). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001248026 SCV004194807 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-08-16 criteria provided, single submitter clinical testing

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