ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile)

gnomAD frequency: 0.00024  dbSNP: rs142479732
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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 RCV000635350 SCV000756755 uncertain significance Renal carnitine transport defect 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 337 of the SLC22A5 protein (p.Thr337Ile). This variant is present in population databases (rs142479732, gnomAD 0.08%). This missense change has been observed in individual(s) with SLC22A5-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 529850). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.
GeneDx RCV001785686 SCV002028118 uncertain significance not provided 2024-11-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000635350 SCV002055854 uncertain significance Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
Giacomini Lab, University of California, San Francisco RCV000635350 SCV002576631 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000635350 SCV002783268 uncertain significance Renal carnitine transport defect 2021-09-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV002226475 SCV002078336 uncertain significance Decreased circulating carnitine concentration 2020-07-16 no assertion criteria provided clinical testing
Natera, Inc. RCV000635350 SCV002107458 uncertain significance Renal carnitine transport defect 2020-07-16 no assertion criteria provided clinical testing

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