ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.861G>C (p.Gln287His)

dbSNP: rs1182361371
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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 RCV001245010 SCV001418270 uncertain significance Renal carnitine transport defect 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 287 of the SLC22A5 protein (p.Gln287His). This variant is not present in population databases (gnomAD no frequency). 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: 969623). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. RCV002226526 SCV002078324 uncertain significance Decreased circulating carnitine concentration 2021-03-01 no assertion criteria provided clinical testing
Natera, Inc. RCV001245010 SCV002107447 uncertain significance Renal carnitine transport defect 2021-03-01 no assertion criteria provided clinical testing

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