ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1022G>A (p.Arg341Gln)

gnomAD frequency: 0.00005  dbSNP: rs757199947
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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 RCV000805707 SCV000945673 uncertain significance Renal carnitine transport defect 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 341 of the SLC22A5 protein (p.Arg341Gln). This variant is present in population databases (rs757199947, gnomAD 0.01%). 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: 650541). 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 with a positive predictive value of 95%. 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. RCV002226493 SCV002078338 uncertain significance Decreased circulating carnitine concentration 2020-09-28 no assertion criteria provided clinical testing
Natera, Inc. RCV000805707 SCV002107461 uncertain significance Renal carnitine transport defect 2020-09-28 no assertion criteria provided clinical testing

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