ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1453G>A (p.Ala485Thr)

gnomAD frequency: 0.00004  dbSNP: rs145147616
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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 RCV000688283 SCV000815888 uncertain significance Renal carnitine transport defect 2024-09-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 485 of the SLC22A5 protein (p.Ala485Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 568045). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. RCV002226482 SCV002078361 uncertain significance Decreased circulating carnitine concentration 2020-08-07 no assertion criteria provided clinical testing
Natera, Inc. RCV000688283 SCV002107484 uncertain significance Renal carnitine transport defect 2020-08-07 no assertion criteria provided clinical testing

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