ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe)

gnomAD frequency: 0.00002  dbSNP: rs778716973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037880 SCV001201315 uncertain significance Renal carnitine transport defect 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 507 of the SLC22A5 protein (p.Leu507Phe). This variant is present in population databases (rs778716973, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 836693). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Giacomini Lab, University of California, San Francisco RCV001037880 SCV002576626 likely benign Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Natera, Inc. RCV001037880 SCV001452786 uncertain significance Renal carnitine transport defect 2020-09-16 no assertion criteria provided clinical testing

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