ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.825G>T (p.Trp275Cys)

gnomAD frequency: 0.00001  dbSNP: rs386134207
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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 RCV001895774 SCV002155573 uncertain significance Renal carnitine transport defect 2021-04-04 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 275 of the SLC22A5 protein (p.Trp275Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC22A5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV001895774 SCV002576728 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research

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