ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)

gnomAD frequency: 0.00016  dbSNP: rs75783492
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525201 SCV000632577 likely benign Renal carnitine transport defect 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000525201 SCV001317231 uncertain significance Renal carnitine transport defect 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV000525201 SCV002055760 likely benign Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
Giacomini Lab, University of California, San Francisco RCV000525201 SCV002576618 likely benign Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Natera, Inc. RCV002226472 SCV002078331 benign Decreased circulating carnitine concentration 2019-12-13 no assertion criteria provided clinical testing
Natera, Inc. RCV000525201 SCV002107453 benign Renal carnitine transport defect 2019-12-13 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003935418 SCV004748534 likely benign SLC22A5-related disorder 2020-02-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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