ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1623del (p.Asp541fs)

dbSNP: rs2126316669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385872 SCV001585879 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2020-04-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ETFDH are known to be pathogenic (PMID: 16510302, 23785301). This variant has been observed in individual(s) with ETFDH-related disease (PMID: 12359134). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp541Glufs*6) in the ETFDH gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV001385872 SCV005060370 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-02-13 criteria provided, single submitter clinical testing

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