ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.961C>G (p.Leu321Val)

gnomAD frequency: 0.00001  dbSNP: rs761264590
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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 RCV001065280 SCV001230236 uncertain significance Renal carnitine transport defect 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 321 of the SLC22A5 protein (p.Leu321Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs761264590, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV001065280 SCV002576595 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Natera, Inc. RCV001065280 SCV001462816 uncertain significance Renal carnitine transport defect 2020-09-16 no assertion criteria provided clinical testing

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