ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs)

dbSNP: rs386134225
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Total submissions: 4
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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, M Health Fairview: University of Minnesota 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, LabCorp 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-Nilou Lab RCV000022387 SCV002055836 pathogenic Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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