ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1036A>G (p.Met346Val)

dbSNP: rs745453534
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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 RCV000704286 SCV000833229 uncertain significance Renal carnitine transport defect 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 346 of the SLC22A5 protein (p.Met346Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs745453534, ExAC 0.002%). 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. RCV002226489 SCV002078339 uncertain significance Decreased circulating carnitine concentration 2021-08-09 no assertion criteria provided clinical testing
Natera, Inc. RCV000704286 SCV002107462 uncertain significance Renal carnitine transport defect 2021-08-09 no assertion criteria provided clinical testing

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