ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.831+4T>C

gnomAD frequency: 0.00005  dbSNP: rs752971257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698477 SCV000827143 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-08-09 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the ETFDH gene. It does not directly change the encoded amino acid sequence of the ETFDH protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs752971257, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ETFDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 576073). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001585642 SCV001813330 likely benign not provided 2020-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534358 SCV003555844 uncertain significance Inborn genetic diseases 2021-04-28 criteria provided, single submitter clinical testing The c.831+4T>C intronic alteration consists of a T to C substitution nucleotides after coding exon 7 in the ETFDH gene. In silico splice site analysis for this alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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