ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)

dbSNP: rs886042092
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000275675 SCV000331201 uncertain significance not provided 2015-09-01 criteria provided, single submitter clinical testing
Invitae RCV000635344 SCV000756748 uncertain significance Renal carnitine transport defect 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 362 of the SLC22A5 protein (p.Ser362Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with primary carnitine deficiency (PMID: 20074989, 23520115). ClinVar contains an entry for this variant (Variation ID: 281066). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genome-Nilou Lab RCV000635344 SCV002055856 uncertain significance Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
Giacomini Lab, University of California, San Francisco RCV000635344 SCV002576651 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Baylor Genetics RCV000635344 SCV004203577 likely pathogenic Renal carnitine transport defect 2024-03-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV002226461 SCV002078344 uncertain significance Decreased circulating carnitine concentration 2020-09-16 no assertion criteria provided clinical testing
Natera, Inc. RCV000635344 SCV002107466 uncertain significance Renal carnitine transport defect 2020-09-16 no assertion criteria provided clinical testing
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV002261028 SCV002540198 likely pathogenic Dilated cardiomyopathy 1A no assertion criteria provided research

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