ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.327G>C (p.Glu109Asp)

dbSNP: rs760680664
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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 RCV000810776 SCV000951009 uncertain significance Renal carnitine transport defect 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 109 of the SLC22A5 protein (p.Glu109Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs760680664, ExAC 0.002%). 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. 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. RCV002226495 SCV002078297 uncertain significance Decreased circulating carnitine concentration 2021-10-11 no assertion criteria provided clinical testing
Natera, Inc. RCV000810776 SCV002107420 uncertain significance Renal carnitine transport defect 2021-10-11 no assertion criteria provided clinical testing

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