ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter)

dbSNP: rs745714733
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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 RCV001946884 SCV002239041 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1456462). This premature translational stop signal has been observed in individual(s) with ETFDH-related conditions (PMID: 19758981, 21347544). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr465*) 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).
Baylor Genetics RCV001946884 SCV004194777 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-03-14 criteria provided, single submitter clinical testing

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