ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.4C>G (p.Arg2Gly)

dbSNP: rs762330138
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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 RCV001279115 SCV001567324 uncertain significance Renal carnitine transport defect 2021-09-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 2 of the SLC22A5 protein (p.Arg2Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs762330138, ExAC 0.02%). 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.
Giacomini Lab, University of California, San Francisco RCV001279115 SCV002576608 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Natera, Inc. RCV001279115 SCV001466182 uncertain significance Renal carnitine transport defect 2020-10-14 no assertion criteria provided clinical testing

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