ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.785C>T (p.Ala262Val)

gnomAD frequency: 0.00001  dbSNP: rs752989096
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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 RCV001303014 SCV001492245 uncertain significance Renal carnitine transport defect 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 262 of the SLC22A5 protein (p.Ala262Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs752989096, ExAC 0.01%). This variant has not been reported in the literature in individuals affected 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 tolerated. 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. RCV002226535 SCV002078318 uncertain significance Decreased circulating carnitine concentration 2021-04-12 no assertion criteria provided clinical testing
Natera, Inc. RCV001303014 SCV002107441 uncertain significance Renal carnitine transport defect 2021-04-12 no assertion criteria provided clinical testing

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