ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1568A>G (p.Gln523Arg)

gnomAD frequency: 0.00008  dbSNP: rs28383482
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001840798 SCV002099618 uncertain significance not provided 2022-02-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Giacomini Lab, University of California, San Francisco RCV001279120 SCV002576636 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV001279120 SCV002778331 uncertain significance Renal carnitine transport defect 2022-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001279120 SCV003257333 uncertain significance Renal carnitine transport defect 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 523 of the SLC22A5 protein (p.Gln523Arg). This variant is present in population databases (rs28383482, gnomAD 0.006%). 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: 990996). 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.
Natera, Inc. RCV001279120 SCV001466190 uncertain significance Renal carnitine transport defect 2020-09-12 no assertion criteria provided clinical testing

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