Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000534299 | SCV000631945 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2024-01-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser167Cysfs*7) 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 (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ETFA-related conditions. ClinVar contains an entry for this variant (Variation ID: 459956). For these reasons, this variant has been classified as Pathogenic. |
| Prevention |
RCV003403271 | SCV004120523 | pathogenic | ETFA-related disorder | 2022-08-24 | criteria provided, single submitter | clinical testing | The ETFA c.495_496delGT variant is predicted to result in a frameshift and premature protein termination (p.Ser167Cysfs*7). To our knowledge, this variant has not been reported in the literature. It has been reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-76578777-AAC-A). Frameshift variants in ETFA are expected to be pathogenic, and therefore this variant is interpreted as pathogenic. |
| Baylor Genetics | RCV000534299 | SCV004194724 | likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-09-24 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000534299 | SCV004240951 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-12-01 | criteria provided, single submitter | clinical testing | Variant summary: ETFA c.495_496delGT (p.Ser167CysfsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.2e-05 in 251322 control chromosomes. To our knowledge, no occurrence of c.495_496delGT in individuals affected with Glutaric Aciduria, Type 2a and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |