ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.800G>C (p.Gly267Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Giacomini Lab, University of California, San Francisco RCV002286661 SCV002576678 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002286661 SCV003780471 uncertain significance Renal carnitine transport defect 2022-03-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 267 of the SLC22A5 protein (p.Gly267Ala). This variant is present in population databases (rs775430253, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. 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 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793760 SCV005411865 uncertain significance not provided 2024-05-16 criteria provided, single submitter clinical testing

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