ClinVar Miner

Submissions for variant NM_000387.6(SLC25A20):c.270del (p.Phe91fs)

dbSNP: rs1575989549
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001030042 SCV001190563 pathogenic Carnitine acylcarnitine translocase deficiency 2019-05-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001030042 SCV001337811 pathogenic Carnitine acylcarnitine translocase deficiency 2020-01-13 criteria provided, single submitter clinical testing Variant summary: SLC25A20 c.270delC (p.Phe91LeufsX38) 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 250358 control chromosomes. c.270delC has been reported in the literature in at-least one homozygous individual affected with Carnitine-Acylcarnitine Translocase Deficiency (Hsu_2001) and cited frequently by others (example, Wang_2011 and Costa_2003). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal CACT enzyme activity (Hsu_2001). 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.
Baylor Genetics RCV001030042 SCV004201728 pathogenic Carnitine acylcarnitine translocase deficiency 2022-09-22 criteria provided, single submitter clinical testing

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