ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.451G>T (p.Val151Leu)

dbSNP: rs386134193
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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 RCV001279117 SCV002127488 uncertain significance Renal carnitine transport defect 2022-08-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 151 of the SLC22A5 protein (p.Val151Leu). This variant is present in population databases (rs386134193, gnomAD 0.03%). 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: 990993). 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 disrupt the consensus 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.
Fulgent Genetics, Fulgent Genetics RCV001279117 SCV002777248 uncertain significance Renal carnitine transport defect 2021-08-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279117 SCV001466186 uncertain significance Renal carnitine transport defect 2020-08-05 no assertion criteria provided clinical testing

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