ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1060A>G (p.Ile354Val)

dbSNP: rs1166753949
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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 RCV001063822 SCV001228685 uncertain significance Renal carnitine transport defect 2022-07-21 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 354 of the SLC22A5 protein (p.Ile354Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 858027). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC22A5 protein function. 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. RCV002226513 SCV002078342 uncertain significance Decreased circulating carnitine concentration 2021-02-11 no assertion criteria provided clinical testing
Natera, Inc. RCV001063822 SCV002107464 uncertain significance Renal carnitine transport defect 2021-02-11 no assertion criteria provided clinical testing

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