ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu)

dbSNP: rs775430253
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671487 SCV000796464 uncertain significance Renal carnitine transport defect 2017-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671487 SCV002311162 uncertain significance Renal carnitine transport defect 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 267 of the SLC22A5 protein (p.Gly267Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs775430253, ExAC 0.04%). 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: 555629). 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 C15"). 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.
Giacomini Lab, University of California, San Francisco RCV000671487 SCV002576675 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000671487 SCV002775210 uncertain significance Renal carnitine transport defect 2022-02-01 criteria provided, single submitter clinical testing

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