Total submissions: 4
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. |
Gene |
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 |