Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000174332 | SCV000225614 | pathogenic | not provided | 2014-02-10 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001850092 | SCV002234191 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2024-02-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu524Glufs*4) in the ETFDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ETFDH are known to be pathogenic (PMID: 16510302, 23785301). This variant is present in population databases (rs763417056, 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: 167042). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001850092 | SCV003929370 | likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-04-15 | criteria provided, single submitter | clinical testing | Variant summary: ETFDH c.1570_1571delCT (p.Leu524GlufsX4) 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. Truncations downstream of this position have been classified as pathogenic within ClinVar (e.g. c.1648_1649del [p.Leu550fs], c.1773_1774del [p.Thr591_Cys592insTer]). The variant allele was found at a frequency of 8e-06 in 251402 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1570_1571delCT in individuals affected with Glutaric Aciduria, Type 2c and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Baylor Genetics | RCV001850092 | SCV004040831 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-05-26 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV001850092 | SCV005657664 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2024-04-05 | criteria provided, single submitter | clinical testing |