ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)

gnomAD frequency: 0.00004  dbSNP: rs398124151
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081076 SCV000224955 pathogenic not provided 2012-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000081076 SCV000566238 pathogenic not provided 2023-10-20 criteria provided, single submitter clinical testing Observed in the heterozygous state, or with a second ETFDH variant, in multiple patients with features of multiple acyl-CoA dehydrogenase deficiency who were tested at GeneDx or reported in the published literature (Dillon et al., 2018; van Rijt et al., 2020); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31904027, 29453417)
Fulgent Genetics, Fulgent Genetics RCV000173803 SCV000893659 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2022-01-29 criteria provided, single submitter clinical testing
Invitae RCV000173803 SCV001201608 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu412*) 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 present in population databases (rs398124151, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with glutaric aciduria type 2 (Invitae). ClinVar contains an entry for this variant (Variation ID: 95071). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000173803 SCV004194805 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-08-21 criteria provided, single submitter clinical testing

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