ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu)

gnomAD frequency: 0.00001  dbSNP: rs758158685
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000316258 SCV000340008 uncertain significance not provided 2016-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859650 SCV002178084 uncertain significance Renal carnitine transport defect 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 541 of the SLC22A5 protein (p.Met541Leu). This variant is present in population databases (rs758158685, 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: 286533). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV001859650 SCV002576603 likely benign Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research

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