ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del)

dbSNP: rs1555563619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673519 SCV000798731 uncertain significance Nephropathic cystinosis 2018-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531339 SCV003463057 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing This variant, c.622_624del, results in the deletion of 1 amino acid(s) of the CTNS protein (p.Phe208del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CTNS-related conditions. ClinVar contains an entry for this variant (Variation ID: 557383). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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