Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001733365 | SCV001983460 | pathogenic | Carnitine acylcarnitine translocase deficiency | 2021-09-06 | criteria provided, single submitter | clinical testing | Variant summary: SLC25A20 c.528delT (p.Met177CysfsX12) 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 was absent in 251424 control chromosomes. c.528delT has been reported in the literature as a compound heterozygous genotype (with c.496C>T, p.R166X) in at-least one comprehensively analyzed individual identified by a positive newborn screen to be affected with Carnitine-Acylcarnitine Translocase Deficiency (example, Wang_2011). This case has been subsequently cited by others (example, Palmieri_2020, Vitoria_2015). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV001733365 | SCV004293091 | pathogenic | Carnitine acylcarnitine translocase deficiency | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met177Cysfs*12) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with a positive newborn screening result for SLC25A20-related disease (PMID: 21605995). ClinVar contains an entry for this variant (Variation ID: 1301321). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV001733365 | SCV005056802 | pathogenic | Carnitine acylcarnitine translocase deficiency | 2024-03-16 | criteria provided, single submitter | clinical testing |