ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1451G>A (p.Gly484Asp)

dbSNP: rs28383480
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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 RCV001308275 SCV001497717 uncertain significance Renal carnitine transport defect 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 484 of the SLC22A5 protein (p.Gly484Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). 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 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.
Natera, Inc. RCV002226536 SCV002078360 uncertain significance Decreased circulating carnitine concentration 2020-09-30 no assertion criteria provided clinical testing
Natera, Inc. RCV001308275 SCV002107483 uncertain significance Renal carnitine transport defect 2020-09-30 no assertion criteria provided clinical testing

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