ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.139C>T (p.Arg47Trp)

gnomAD frequency: 0.00005  dbSNP: rs201153770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002563656 SCV001396731 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 47 of the CTNS protein (p.Arg47Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs201153770, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with CTNS-related conditions. 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"). 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. RCV001828790 SCV002093224 uncertain significance Cystinosis 2020-04-27 no assertion criteria provided clinical testing

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