ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Giacomini Lab, University of California, San Francisco RCV002286625 SCV002576587 likely benign Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002286625 SCV003025448 uncertain significance Renal carnitine transport defect 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 192 of the SLC22A5 protein (p.Asn192Ser). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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 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.

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