ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.215G>C (p.Arg72Pro)

dbSNP: rs1177265994
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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 RCV001202452 SCV001373564 uncertain significance Renal carnitine transport defect 2019-07-30 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SLC22A5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 72 of the SLC22A5 protein (p.Arg72Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline.
Natera, Inc. RCV002226518 SCV002078280 uncertain significance Decreased circulating carnitine concentration 2020-03-11 no assertion criteria provided clinical testing
Natera, Inc. RCV001202452 SCV002107488 uncertain significance Renal carnitine transport defect 2020-03-11 no assertion criteria provided clinical testing

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