ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1255C>G (p.Leu419Val)

gnomAD frequency: 0.00003  dbSNP: rs780591287
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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 RCV000696397 SCV000824958 uncertain significance Renal carnitine transport defect 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 419 of the SLC22A5 protein (p.Leu419Val). This variant is present in population databases (rs780591287, gnomAD 0.003%). 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: 574461). 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. 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.
Natera, Inc. RCV002226484 SCV002078349 uncertain significance Decreased circulating carnitine concentration 2020-08-18 no assertion criteria provided clinical testing
Natera, Inc. RCV000696397 SCV002107472 uncertain significance Renal carnitine transport defect 2020-08-18 no assertion criteria provided clinical testing

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