ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)

gnomAD frequency: 0.00004  dbSNP: rs754202690
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824641 SCV000965546 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg18*) in the ETFA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ETFA are known to be pathogenic (PMID: 16510302, 23785301). This variant is present in population databases (rs754202690, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Acyl-CoA dehydrogenase deficiency (PMID: 16510302). ClinVar contains an entry for this variant (Variation ID: 666198). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001564261 SCV001787399 pathogenic not provided 2023-03-14 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: 25525159, 31980526, 30612563, 16510302)
Ambry Genetics RCV002538204 SCV003747206 pathogenic Inborn genetic diseases 2021-12-23 criteria provided, single submitter clinical testing The c.52C>T (p.R18*) alteration, located in exon 2 (coding exon 2) of the ETFA gene, consists of a C to T substitution at nucleotide position 52. This changes the amino acid from a arginine (R) to a stop codon at amino acid position 18. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.01% (16/281070) total alleles studied. The highest observed frequency was 0.02% (6/30600) of South Asian alleles. Based on the available evidence, this alteration is classified as pathogenic.
Baylor Genetics RCV000824641 SCV004194714 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-10-16 criteria provided, single submitter clinical testing

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