ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.470C>A (p.Ser157Tyr)

dbSNP: rs759925126
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001058 SCV001158179 uncertain significance Renal carnitine transport defect 2019-02-11 criteria provided, single submitter clinical testing The SLC22A5 c.470C>A; p.Ser157Tyr variant, to our knowledge, is not described in the medical literature or in gene-specific databases. It is also absent from general population databases (Exome Variant Server and Genome Aggregation Database), indicating it is not a common polymorphism. The serine at codon 157 is moderately conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.
Natera, Inc. RCV002226507 SCV002078304 uncertain significance Decreased circulating carnitine concentration 2021-07-06 no assertion criteria provided clinical testing
Natera, Inc. RCV001001058 SCV002107428 uncertain significance Renal carnitine transport defect 2021-07-06 no assertion criteria provided clinical testing

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