ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)

gnomAD frequency: 0.00015  dbSNP: rs1314998853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537158 SCV000943246 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 278 of the CTNS protein (p.Leu278Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). 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: "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.
Fulgent Genetics, Fulgent Genetics RCV002245676 SCV002785575 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2021-07-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825587 SCV002093238 uncertain significance Cystinosis 2020-11-02 no assertion criteria provided clinical testing

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