ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.707_708delinsTT (p.Cys236Phe)

dbSNP: rs2126783727
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001359536 SCV001555410 uncertain significance Renal carnitine transport defect 2020-07-20 criteria provided, single submitter clinical testing 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. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with SLC22A5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with phenylalanine at codon 236 of the SLC22A5 protein (p.Cys236Phe). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and phenylalanine.

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