ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1342G>A (p.Val448Met)

gnomAD frequency: 0.00001  dbSNP: rs386134219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001900980 SCV002159011 uncertain significance Renal carnitine transport defect 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 448 of the SLC22A5 protein (p.Val448Met). This variant is present in population databases (no rsID available, 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: 1394736). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SLC22A5 protein function with a positive predictive value of 95%. This variant disrupts the p.Val448 amino acid residue in SLC22A5. Other variant(s) that disrupt this residue have been observed in individuals with SLC22A5-related conditions (PMID: 28841266, 34249102), which suggests that this may be a clinically significant amino acid residue. 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.
Giacomini Lab, University of California, San Francisco RCV001900980 SCV002576698 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research

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