Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000022387 | SCV000220540 | likely pathogenic | Renal carnitine transport defect | 2014-07-23 | criteria provided, single submitter | literature only | |
Molecular Diagnostics Laboratory, |
RCV000022387 | SCV000890886 | pathogenic | Renal carnitine transport defect | 2016-07-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000022387 | SCV001482243 | pathogenic | Renal carnitine transport defect | 2021-02-13 | criteria provided, single submitter | clinical testing | Variant summary: SLC22A5 c.1556_1559dupACAC (p.Ile521HisfsX3) 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. The variant was absent in 251418 control chromosomes. c.1556_1559dupACAC has been reported in the literature in individuals affected with Systemic Primary Carnitine Deficiency and has been subsequently cited by others (example, Schimmenti_2007, Rose_2012, Longo_2016, Frigeni_2017). To our knowledge, no 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 citing one overlapping publication utilized in the context of this evaluation. Based on the evidence outlined above, the variant was classified as pathogenic. |
Genome- |
RCV000022387 | SCV002055836 | pathogenic | Renal carnitine transport defect | 2021-07-15 | criteria provided, single submitter | clinical testing |