Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000627246 | SCV000748237 | pathogenic | not provided | 2018-04-09 | criteria provided, single submitter | clinical testing | The R166X nonsense variant in the SLC25A20 gene has been reported previously in association with carnitine-acylcarnitine translocase deficiency (Costa et al., 1999; Wang et al., 2011). The R166X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000012918 | SCV002041545 | pathogenic | Carnitine acylcarnitine translocase deficiency | 2021-11-05 | criteria provided, single submitter | clinical testing | Variant summary: SLC25A20 c.496C>T (p.Arg166X) 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 by our laboratory. The variant allele was found at a frequency of 1.2e-05 in 251456 control chromosomes (gnomAD). c.496C>T has been reported in the literature in at least two individuals (homozygous and a compound heterozygous) affected with Carnitine-Acylcarnitine Translocase Deficiency (Costa_1999 and Wang_2011). One homozygous individual with this variant was reported as having a complete deficiency of Carnitine Acylcarnitine carrier enzyme activity at day 3 and confirmed three months later in fibroblasts, however, primary data supporting this finding were not reported (Costa_1999). To our knowledge, no other experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV000012918 | SCV002247327 | pathogenic | Carnitine acylcarnitine translocase deficiency | 2023-07-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg166*) in the SLC25A20 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A20 are known to be pathogenic (PMID: 25614308). This variant is present in population databases (rs151340616, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with carnitine-acylcarnitine translocase deficiency (PMID: 10384384, 12559850). ClinVar contains an entry for this variant (Variation ID: 12135). |
| Fulgent Genetics, |
RCV000012918 | SCV002798901 | pathogenic | Carnitine acylcarnitine translocase deficiency | 2021-10-10 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000012918 | SCV004201711 | pathogenic | Carnitine acylcarnitine translocase deficiency | 2024-03-30 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000012918 | SCV000033159 | pathogenic | Carnitine acylcarnitine translocase deficiency | 1999-05-01 | no assertion criteria provided | literature only |