Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002281690 | SCV002570501 | likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-09-27 | criteria provided, single submitter | clinical testing | Variant summary: ETFA c.470T>G (p.Val157Gly) results in a non-conservative amino acid change located in the N-terminal domain (IPR014730) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251054 control chromosomes. c.470T>G has been reported in the literature in at least two individuals affected with Glutaric Aciduria, Type 2a (Indo_1991, Freneaux_1992, Schiff_2006). These data indicate that the variant may be associated with disease. These publications also reported that the ETFA protein was almost undetectable and had a severely reduced enzyme activity in patient derived fibroblasts (Indo_1991, Freneaux_1992, Schiff_2006). The following publications have been ascertained in the context of this evaluation (PMID: 16546179, 33450351, 20674745, 16510302, 1430199, 1882842, 23867278). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Baylor Genetics | RCV002281690 | SCV004194721 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2024-03-25 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002281690 | SCV005633286 | likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2024-01-03 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000002711 | SCV000022869 | pathogenic | Glutaric acidemia IIa | 1992-11-01 | no assertion criteria provided | literature only |