ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.790_791del (p.Gln264fs)

dbSNP: rs2076198775
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002563971 SCV001413170 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2019-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). This variant has not been reported in the literature in individuals with CTNS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln264Valfs*31) in the CTNS gene. It is expected to result in an absent or disrupted protein product.

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